| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Holoprosencephaly 7 |
|
Wide nasal bridge, Midface retrusion, Lobar holoprosencephaly, Median cleft lip, Holoprosencephal... |
OMIM:610828 |
| Holoprosencephaly 5 |
|
High palate, Syntelencephaly, Lateral ventricle dilatation, Deep philtrum, Hydrocephalus, Semilob... |
OMIM:609637 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Long philtrum, Deep philtrum, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, High palate, Ventriculomegaly, Macrocephaly, Dolichocephaly, Midface retru... |
ORPHA:168624 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Ventriculomegaly, Advanced eruption of teeth, Macrocephaly, ... |
OMIM:614753 |
| Holoprosencephaly 2 |
|
Diabetes insipidus, Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uv... |
OMIM:157170 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma, Orofacial cleft |
OMIM:611638 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Midface r... |
ORPHA:1248 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, Abnormal palate morpholog... |
ORPHA:2412 |
| Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Wide mouth, Micrognathia, Abnormal calvaria morphology, Full cheeks, Holop... |
ORPHA:1636 |
| Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:606685 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Midface retrusion, Subependymal cysts, Hypoplasia of the maxilla, Progres... |
OMIM:618737 |
| Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
|
Micrognathia, Macrocephaly, Midface retrusion |
OMIM:611913 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Prominent nose, Wide anterior fontanel, Wide nasal bridge, Hydrocephalus, Prominen... |
OMIM:614886 |
| Holoprosencephaly 3 |
|
Single naris, Ventriculomegaly, Proboscis, Bifid uvula, Midface retrusion, Central diabetes insip... |
OMIM:142945 |
| Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip, Abnormality of the dentition |
ORPHA:2776 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Holoprosencephaly 11 |
|
Holoprosencephaly, Microcephaly, Cleft lip, Cleft palate, Agenesis of corpus callosum |
OMIM:614226 |
| Holoprosencephaly 4 |
|
Absent nasal septal cartilage, Semilobar holoprosencephaly, Median cleft lip and palate, Median c... |
OMIM:142946 |
| Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails |
|
Macrocephaly, Midface retrusion, Relative macrocephaly, Depressed nasal bridge, Malar flattening |
OMIM:600399 |
| Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the ... |
OMIM:604213 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla, Ventriculomegaly, Microcephaly |
OMIM:618383 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Ventriculomegaly, Wide nasal bridge, Long philtrum, Micrognathia, H... |
OMIM:618577 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Tooth a... |
ORPHA:2003 |
| Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Midface retrusion, Microglos... |
OMIM:277720 |
| Holoprosencephaly 9 |
|
Midface retrusion, Holoprosencephaly, Cleft palate, Bilateral cleft lip and palate, Single naris,... |
OMIM:610829 |
| Monosomy 18P |
|
Brachycephaly, Hypothyroidism, Wide nasal bridge, Micrognathia, Hypodontia, Short philtrum, Downt... |
ORPHA:1598 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
High palate, Macular degeneration, Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the c... |
OMIM:612948 |
| Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Narrow palate,... |
OMIM:613684 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... |
ORPHA:1832 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum, Abnormality of ... |
OMIM:617542 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| 20P12.3 Microdeletion Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Long philtrum, Macrocephaly, Hypoplasia of the maxilla, Depr... |
ORPHA:261295 |
| Seckel Syndrome 4 |
|
Underdeveloped nasal alae, Retrognathia, Microcephaly |
OMIM:613676 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, High palate, Micrognathia, Midface retrusion, Short philtrum, Everted lower lip ve... |
ORPHA:1387 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... |
OMIM:610031 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip... |
OMIM:300602 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Micrognathia, Bifid uvula, Midface retrusion, Depressed nasal bridge, Ante... |
OMIM:604841 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Microdontia, Abnormality of dental morphology, Hypo... |
OMIM:272440 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Retrognathia, Mandibular prognathia, High palate, Ventriculomegaly, Scaphocephaly, Macrocephaly, ... |
OMIM:615637 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Brachycephaly, High palate, Hypogonadism, Narrow mouth, Microcephaly |
ORPHA:2528 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Hydrocephalus, Retinal dysplasia, Type II lissencephaly, Occipital encephalocele, Orofa... |
ORPHA:324416 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... |
OMIM:614039 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Midface retrusion, Depressed nasal bridge, Anteverted nares, Cleft palate,... |
OMIM:184840 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Anterior encephalocele, Coloboma, Bilateral cleft lip, Holoprosencephaly, Bilate... |
OMIM:601357 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Agenesis of corpus callosum, Death in infancy |
ORPHA:85334 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Macrocephaly, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Optic atrophy, Anencephaly, Anal atresi... |
ORPHA:1590 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Hypoplastic frontal si... |
OMIM:136760 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Retrognathia, High palate, Wide nasal bridge, Bifid nasal tip, Trigonocephaly |
OMIM:300983 |
| Schizencephaly |
|
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
| Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Retrognathia, Wide nasal bridge |
OMIM:619844 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Optic atrophy, Death in infancy, Narrow mouth, Microcephaly, Thin vermilion border, Frontal corti... |
OMIM:618766 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip... |
OMIM:300431 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Microcephaly, Wide nasal bridge |
OMIM:618302 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Abnormal nasal septum morphology, Long philtrum, Micrognathia, Velopha... |
OMIM:619941 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Coloboma, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, H... |
OMIM:613153 |
| Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng... |
ORPHA:199306 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Mandibular prognathia, Spinal dysraphism, Encephalocele, Wide... |
ORPHA:1908 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Holoprosencephaly, Microcephaly, Cyclopia, Cleft palate, Abnormality of the die... |
ORPHA:2165 |
| Isolated Arrhinia |
|
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... |
ORPHA:1134 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Holoprosencephaly, Microglossia, Narrow mouth, Cyclopia, Abnormal cranial ner... |
ORPHA:990 |
| Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Micrognathia, Dolichocephaly, Short philtrum, Narrow nasal bridge, Broad nas... |
ORPHA:166108 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Macrocephaly, Short nose, Broad nasal tip, Malar flattening, Open mouth |
OMIM:613670 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Coloboma, Prominent media... |
OMIM:147250 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Convex nasal ridge, Short nasal bridge, Delayed eru... |
ORPHA:2409 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Hydranencepha... |
ORPHA:2570 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cleft palate, Malar flattening, Midface retrusion |
OMIM:300261 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Encephalocele, Wide mouth, Volvulus, Supernumerary tooth, Abnormal hypothalamus mor... |
ORPHA:314621 |
| Crouzon Syndrome |
|
Brachycephaly, Convex nasal ridge, Narrow palate, Turricephaly, Hydrocephalus, Midface retrusion,... |
ORPHA:207 |
| Peho-Like Syndrome |
|
Retrognathia, Ventriculomegaly, Short nose, Progressive microcephaly, Full cheeks, Open mouth |
OMIM:617507 |
| Lujan-Fryns Syndrome |
|
Brachycephaly, Macroorchidism, High palate, Micrognathia, Macrocephaly, Short philtrum, Hypoplasi... |
ORPHA:776 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Micrognathia, Frontal bossing, Cleft palate, Glossoptosis |
OMIM:311895 |
| Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
| 17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Macroorchidism, Bifid nose, Microcephaly, Thin vermilion border, Malar flatten... |
ORPHA:139474 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventriculomegaly, Supernumerary nipple, Holoprosencephaly, Cleft palate, Dolichocephaly, Frontal ... |
OMIM:612530 |
| Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventriculomegaly, Widely spaced teeth, Micrognathia, Hyperplasia of th... |
OMIM:617616 |
| Acalvaria |
|
Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum,... |
OMIM:600638 |
| Microcephaly 8, Primary, Autosomal Recessive |
|
Retrognathia, Primary microcephaly |
OMIM:614673 |
| Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Semilobar holoprosencephaly, Narrow mouth, Microcephaly |
OMIM:245552 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Convex nasal ridge, Turricephaly, Hydrocephalus, Frontal bossing, Hypoplasia of th... |
ORPHA:93262 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Mandibular aplasia, Micrognathia, Holoprosencephaly, Microglossia, Narrow mouth, Cleft... |
OMIM:202650 |
| Congenital Myopathy 13 |
|
Brachycephaly, High palate, Ventriculomegaly, Micrognathia, Midface retrusion, Downturned corners... |
OMIM:255995 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Micrognathia, Cleft palate |
OMIM:249710 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Isolated Exencephaly |
|
Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvar... |
ORPHA:563612 |
| Perlman Syndrome |
|
Retrognathia, Hyperinsulinemia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Macroceph... |
ORPHA:2849 |
| Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Liss... |
ORPHA:1528 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, High palate, Ventriculomegaly, Plagiocephaly, Decreased testicular size, Dolichoce... |
OMIM:615433 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Death in infancy, H... |
OMIM:619302 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Optic atrophy |
OMIM:613162 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly, S... |
ORPHA:300570 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Cornelia De Lange Syndrome 5 |
|
Retrognathia, Brachycephaly, High palate, Ventriculomegaly, Hypogonadism, Widely spaced teeth, De... |
OMIM:300882 |
| Pontocerebellar Hypoplasia Type 4 |
|
Micrognathia, Midface retrusion, Primary microcephaly |
ORPHA:166063 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Macrocephaly, Hypoplasia of the maxilla, Prominent nasal bridge |
OMIM:300676 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Skull asymmetry, Ventriculomegaly, Wide nasal bridge, Long philtrum, Velopharyngea... |
OMIM:614701 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Thin verm... |
OMIM:156510 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Decreased testicular size, Macrocephaly, Hypoplasia of the maxilla, Microcephaly, Cr... |
ORPHA:85279 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Mandibular prognathia, Decreased testicular size, Anal atresia, Hypoplasia of the ... |
ORPHA:93950 |
| Crouzon Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Mandibular prognathia, High palate, Coronal craniosynos... |
OMIM:123500 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Midface retrusion, Frontal bossing, Depressed nasal bridge, Anteverted nares, Malar flattening |
OMIM:122430 |
| Jackson-Weiss Syndrome |
|
Convex nasal ridge, Mandibular prognathia, Turricephaly, Midface retrusion, Frontal bossing, Hypo... |
ORPHA:1540 |
| 49,Xxxxy Syndrome |
|
Wide nose, Brachycephaly, Mandibular prognathia, Depressed nasal ridge, Hypogonadism, Delayed eru... |
ORPHA:96264 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Skull asymmetry, High palate, Wide nasal bridge, Craniosynostosis, Prominence of... |
OMIM:265050 |
| Zechi-Ceide Syndrome |
|
Underdeveloped nasal alae, Wide nose, Cleft upper lip, Wide nasal bridge, Oligodontia, Midface re... |
OMIM:612916 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate |
ORPHA:2015 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Hypoplasia of the maxil... |
ORPHA:1529 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, High palate, Ventriculomegaly, Wide nasal bridge, Thick lower lip vermilion, Microg... |
OMIM:618342 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Lissencephaly 4 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Lissencephaly, Agenesis of... |
OMIM:614019 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Ventriculomegaly, Long philtrum, Narrow mouth, Microcephaly, Thin vermilion ... |
OMIM:615502 |
| Triploidy |
|
Meningocele, Non-midline cleft lip, Wide mouth, Micrognathia, Hydrocephalus, Macrocephaly, Macrog... |
ORPHA:3376 |
| Atelosteogenesis, Type Iii |
|
Micrognathia, Midface retrusion, Prominent occiput, Frontal bossing, Hypoplasia of the maxilla, D... |
OMIM:108721 |
| Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Midface retrusion, Short philtrum, Short nose, Depressed nasal bridge,... |
OMIM:614744 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Dental malocclusion, Mandibular prognathia, High palate, Spina bifida, Midface ret... |
ORPHA:1327 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Hypoplasia of the corpus callosum, Abnormal basal ganglia mo... |
ORPHA:101029 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Brachycephaly, Macrodontia of permanent maxillary... |
OMIM:257850 |
| Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, High palate, Wide nasal bridge, Micrognathia, Cryptorchidism |
OMIM:618393 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, Hydrocephalu... |
OMIM:304100 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Broad nasal tip |
OMIM:259610 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Anal atre... |
ORPHA:2166 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, Abnormality of the ... |
ORPHA:572013 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Bamforth-Lazarus Syndrome |
|
Retrognathia, Congenital hypothyroidism, Cleft palate, Thyroid agenesis, Choanal atresia |
ORPHA:1226 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Ele... |
OMIM:604765 |
| Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Retrognathia, Mandibular prognathia, Long philtrum, Wide nasal bridge, Wide mouth, Macrocephaly, ... |
OMIM:619595 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Overhanging nasal tip, Midface retrusion, Short philtrum, Diastema, Hypoplasia of ... |
OMIM:619142 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal third ventricle morphol... |
ORPHA:141091 |
| 1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Submucous cleft hard palate, Frontal bossing, Depressed nasal bridge, ... |
ORPHA:250999 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Delayed eruption of teeth, Preauricular pit, Microcephaly, Cleft palate, Cran... |
OMIM:600252 |
| Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Ventriculomegaly, Thick lower lip vermilion, Micrognathia, Midface retrusion, Thin... |
OMIM:179613 |
| German Syndrome |
|
Brachycephaly, High palate, Wide nasal bridge, Micrognathia, Midface retrusion, Dolichocephaly, E... |
ORPHA:2077 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Microdontia, Hypodontia, Midface retrusion, Hypoplasia of the maxilla, Everted... |
ORPHA:782 |
| Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum, Cerebellar vermis h... |
OMIM:619111 |
| Jawad Syndrome |
|
Retrognathia, Prominent nose, Primary microcephaly |
OMIM:251255 |
| Zechi-Ceide Syndrome |
|
Wide nose, Mandibular prognathia, Wide nasal bridge, Oligodontia, Midface retrusion, Short philtr... |
ORPHA:217017 |
| Pierpont Syndrome |
|
Wide nose, Brachycephaly, Prominent median palatal raphe, Widely spaced teeth, Midface retrusion,... |
OMIM:602342 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Brachyturricephaly, Delayed eruption of teeth, Micrognath... |
OMIM:613849 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, Wide nasal bridge, Micrognathia, Dolichocephaly, Microcephaly, Cryptorchidism, Tri... |
OMIM:613792 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
| Trisomy 18P |
|
Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Pyloric stenosis, Bilateral cryptorch... |
ORPHA:1715 |
| Microform Holoprosencephaly |
|
Short philtrum, Panhypopituitarism, Solitary median maxillary central incisor, Tented upper lip v... |
ORPHA:280200 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Retrognathia, High palate, Long philtrum, Decreased thalamic volume, Microcephaly |
OMIM:619072 |
| Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Convex nasal ridge, Midface retrusion, Abnormal palate morphology, Microcephaly, Trigonocephaly |
ORPHA:2261 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate |
ORPHA:718 |
| Arthrogryposis, Distal, Type 1C |
|
Retrognathia, High palate, Bifid uvula, Narrow mouth, Thin vermilion border, Pursed lips, Cryptor... |
OMIM:619110 |
| Pontocerebellar Hypoplasia, Type 1F |
|
Retrognathia, Long philtrum, Depressed nasal bridge, Microcephaly, Smooth philtrum, Anteverted na... |
OMIM:619304 |
| Ck Syndrome |
|
Retrognathia, High palate, Micrognathia, Dental crowding, Microcephaly, Malar flattening, Promine... |
OMIM:300831 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Oral synechia, Everted lower lip vermilion, Full cheeks, Narrow mouth, Cleft palate |
ORPHA:2016 |
| Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, Decreased response to growth hormone stimulation test, High palat... |
OMIM:601853 |
| Hartsfield Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosen... |
ORPHA:2117 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Wide mouth, Macroglossia, ... |
OMIM:618729 |
| Lissencephaly 3 |
|
Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, P... |
OMIM:611603 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Relative macrocephaly, Midface retrusion, Frontal bossing, Bulbous nose |
ORPHA:2324 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, High palate, Hypoplasia of the thymus, Micrognathia, Microceph... |
ORPHA:40366 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Cortical dy... |
OMIM:608716 |
| Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Prominent nose, Ventriculomegaly, Wide nasal bridge, High palate, Widely space... |
OMIM:618205 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:616570 |
| Gómez-López-Hernández Syndrome |
|
Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Anteverted nares, Thin vermilion b... |
ORPHA:1532 |
| Cohen Syndrome |
|
Convex nasal ridge, Decreased response to growth hormone stimulation test, Macrodontia of permane... |
OMIM:216550 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Pfeiffer Syndrome |
|
Choanal stenosis, Mandibular prognathia, High palate, Brachyturricephaly, Coronal craniosynostosi... |
OMIM:101600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Macular atrophy, Hyp... |
OMIM:616171 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, High palate, Micrognathia, Midface retrusion, Short nose, Depressed nasal bridge, ... |
ORPHA:1913 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, High palate, Abnormal external ... |
ORPHA:556955 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hartsfield Syndrome |
|
Wide nose, Diabetes insipidus, Hypoplasia of the frontal bone, Cleft upper lip, Gonadotropin defi... |
OMIM:615465 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Preauricular pit, Micrognathia, Dental crow... |
OMIM:616367 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Abnormal number of incisors, Prominent nose, Cryptorchidism |
ORPHA:2958 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Pierre-Robin sequence, Wide mouth, Microcephaly, Cleft palate, Bulbous nose |
OMIM:619981 |
| Baraitser-Winter Syndrome 1 |
|
Retrognathia, Cleft upper lip, Ventriculomegaly, Wide nasal bridge, Long philtrum, Wide mouth, Mi... |
OMIM:243310 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Ventriculomegaly, Wide mouth, Thick lower lip vermilion, Midface retrusion, Depressed nasal bridg... |
OMIM:617268 |
| Dysostosis, Stanescu Type |
|
Brachycephaly, Convex nasal ridge, Abnormal nasal morphology, Midface retrusion, Macroglossia, Hy... |
ORPHA:1798 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, Gingival overgrowth, Calvarial ... |
OMIM:616331 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ... |
ORPHA:250972 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
| Apert Syndrome |
|
Acrobrachycephaly, Ovarian neoplasm, Convex nasal ridge, Narrow palate, Ventriculomegaly, Ectopic... |
ORPHA:87 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, High palate, Decreased response to growth hormone stimulation test, De... |
OMIM:615866 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short philtrum |
ORPHA:93945 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Skull asymmetry, Bifid uvula, Hydrocephalus, Secondary microcephaly, Protruding ton... |
OMIM:612938 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Ventriculomegaly, Micrognathia, Hydrocephalus, Short nose, Frontal bossing, Meckel ... |
ORPHA:163961 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Septo-optic dysplasia, Micrognathia, Submucous cleft hard palate, Semilobar holopro... |
OMIM:301043 |
| 6Q16 Microdeletion Syndrome |
|
Retrognathia, Micrognathia, Macrocephaly, Depressed nasal bridge, Full cheeks, Anteverted nares, ... |
ORPHA:171829 |
| Keipert Syndrome |
|
Macrocephaly, Hypoplasia of the maxilla, Depressed nasal bridge, Tented upper lip vermilion, Exag... |
ORPHA:2662 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Plagiocephaly, Ventriculomegaly, Micrognathia, Midface retrusion, Everted lower lip vermilion, Sm... |
OMIM:619720 |
| Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
| Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Micrognathia, Midface retrusion, Dolichocephaly, Long nasal bridge, Microcephaly, Cryptorchidism |
OMIM:620071 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Ventriculomegaly, Microdontia, Midface retrusion, Prominent occiput, Gingiva... |
OMIM:602535 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Agenesis of corpus callosum, Periventricular leukomalacia, Optic atrophy |
OMIM:618324 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Prominent nose, Cleft soft palate, Lateral ventricle dilatation, Primary microcepha... |
ORPHA:293725 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Retrognathia, Ventriculomegaly, Wide nasal bridge, Long philtrum, Short philtrum, Everted lower l... |
OMIM:619556 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Ventriculomegaly, Wide nasal bridge, Natal tooth, Bilateral cleft lip,... |
OMIM:612651 |
| Delayed Membranous Cranial Ossification |
|
Midface retrusion, Depressed nasal ridge, Prominent occiput, Frontal bossing |
ORPHA:3034 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Optic atrophy, Retinal vascular tortuosity, Bifid uvula, Microcephaly, Periventricular white matt... |
OMIM:618768 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose |
ORPHA:90653 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips,... |
OMIM:241310 |
| Acrodysostosis |
|
Brachycephaly, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption ... |
ORPHA:950 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Accessory oral frenulum, Short nose, Hypoplasia of the maxilla, Secondary microceph... |
ORPHA:79113 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Turricephaly, Hydrocephalus, Midface retrusion, Dolichocephaly, Preauricular skin ... |
ORPHA:1555 |
| Intellectual Developmental Disorder, Autosomal Recessive 27 |
|
Depressed nasal bridge, Midface retrusion, Microcephaly |
OMIM:614340 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Incisor macrodontia, High palate, Wide nasal bridge, Frontal bossing, ... |
ORPHA:438216 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Primary microcephaly, Cerebellar hypoplasia, Simplified gyral patter... |
OMIM:617090 |
| Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Encephalocele, Micrognathia, Macrocephaly, Narrow mouth, Bi... |
ORPHA:398156 |
| Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, Convex nasal ridge, High palate, Selective tooth agenesis, Micro... |
OMIM:613823 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal nostril morphology, Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Long philtru... |
ORPHA:178303 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Holoprosencephaly, Hydrocephalus |
OMIM:617967 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Thin upper lip vermilion, Broad nasal tip, Widely-space... |
OMIM:619719 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Cleft palate, Midface retrusion, Microcephaly |
ORPHA:2216 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Retrognathia, Wide nasal bridge, Deep philtrum, Macrocephaly, Midface retrusion, Supernumerary ni... |
OMIM:620098 |
| Pseudodiastrophic Dysplasia |
|
Brachycephaly, Micrognathia, Midface retrusion, Frontal bossing, Anteverted nares, Smooth philtru... |
OMIM:264180 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Dysplastic corpus callosum, Microcephaly, Motor axonal neuropathy |
OMIM:618276 |
| Prieto Syndrome |
|
Retrognathia, Abnormality of the dentition, Prominent nose, Cryptorchidism |
OMIM:309610 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
| Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Pierre-Robin sequence, Macrocephaly, Midface retrusion, Short philtrum, Thin upper... |
OMIM:619504 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Micr... |
ORPHA:2521 |
| Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Retrognathia, Wide nasal bridge, Anteverted nares, Bulbous nose, Thick vermilion border |
OMIM:615979 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401830 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... |
ORPHA:2182 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, High palate, Frontal bossing |
OMIM:617915 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Mandibular prognathia, Ventriculomegaly, Wide nasal bridge, Everted upper lip verm... |
OMIM:182290 |
| Baraitser-Winter Syndrome 2 |
|
Retrognathia, Long philtrum, Wide mouth, Coloboma, Lissencephaly, Thin upper lip vermilion, Secon... |
OMIM:614583 |
| Raynaud-Claes Syndrome |
|
Mandibular prognathia, Midface retrusion, Microcephaly |
OMIM:300114 |
| Developmental And Epileptic Encephalopathy 87 |
|
High palate, Prominent nose, Wide mouth, Widely spaced teeth, Midface retrusion, U-Shaped upper l... |
OMIM:618916 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Thin corpus callosum, Long philtrum, Agenesis of corpus callosum, Probst bundles |
OMIM:618286 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401820 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, High palate, Deep philtrum, Micrognathia, Macrocephaly, Short philtrum, Frontal b... |
OMIM:309520 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:618492 |
| Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Hydrocephalus, Median ... |
OMIM:252100 |
| 16P13.11 Microdeletion Syndrome |
|
Cleft upper lip, Ventriculomegaly, Wide mouth, Short nose, Thin upper lip vermilion, Depressed na... |
ORPHA:261236 |
| Lissencephaly Due To Tuba1A Mutation |
|
Hypoplasia of the brainstem, Perisylvian polymicrogyria, Aganglionic megacolon, Agyria, Dysgenesi... |
ORPHA:171680 |
| Mismatch Repair Cancer Syndrome 4 |
|
Colon cancer, Adenomatous colonic polyposis, Agenesis of corpus callosum |
OMIM:619101 |
| Orofaciodigital Syndrome Xix |
|
Underdeveloped nasal alae, Lobulated tongue, Retrognathia, Narrow palate, Cleft soft palate, Wide... |
OMIM:620107 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Wide anterior fontanel, Long philtrum, Midface retrusion, Short nose, Frontal bossin... |
OMIM:219200 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Hydrocephalus, Short philtrum,... |
OMIM:601499 |
| Holoprosencephaly |
|
Spinal dysraphism, Anterior hypopituitarism, Median cleft lip, Holoprosencephaly, Tooth agenesis,... |
ORPHA:2162 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Optic atrophy |
ORPHA:588 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, High palate, Midface retrusion, Tooth agenesis, Hypogonado... |
ORPHA:1135 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Masa Syndrome |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:303350 |
| Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Secondary microcephaly, Malar flattening, Midface retrusion |
OMIM:614727 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Dental crowding, Hyperplasia of the maxilla, Open bite |
OMIM:613671 |
| Craniolenticulosutural Dysplasia |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Delayed eruption of teeth, Wide mouth, Lo... |
OMIM:607812 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Coloboma, Optic atrophy, Hydrocephalus, Macroglossia, Optic nerve hypoplasia, Decreased thalamic ... |
ORPHA:370959 |
| Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, High palate, Plagiocephaly, Coronal craniosynostosis, Macroce... |
OMIM:602849 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Dysgenesis of ... |
ORPHA:300573 |
| Developmental And Epileptic Encephalopathy 88 |
|
Inferior cerebellar vermis hypoplasia, Everted lower lip vermilion, Hypoplasia of the pons, Parti... |
OMIM:618959 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Abnormal palate morphology, Carious teeth, Malar flattening, Abnormality of the nose |
ORPHA:1390 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Optic atrophy, Neoplasm ... |
ORPHA:54595 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Retrognathia, High palate, Wide mouth, Anteverted nares, Prominent nasal bridge |
OMIM:615722 |
| Parc Syndrome |
|
Cleft palate, Microretrognathia |
OMIM:600331 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Wide nasal bridge, Micrognathia, Prominent nasal tip, Short philtrum, Narrow mouth,... |
ORPHA:352490 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Macrocephaly, Frontal bossing, Cloverleaf skull, ... |
ORPHA:93274 |
| Aicardi Syndrome |
|
Dilated third ventricle, Precocious puberty, Cleft upper lip, Lateral ventricle dilatation, Spina... |
OMIM:304050 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Hypoplasia of the m... |
ORPHA:915 |
| Acrofacial Dysostosis, Palagonia Type |
|
Micrognathia, Oligodontia, Midface retrusion, Supernumerary tooth, Spina bifida occulta, Malar fl... |
ORPHA:1787 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Hypomandibular Faciocranial Dysostosis |
|
Brachycephaly, Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Midface retrusion... |
ORPHA:1790 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Mandibular prognathia, High palate, Plagiocephaly, Wide nasal bridge, Widely space... |
ORPHA:369891 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Ventriculomegaly, Macrocephaly, Hydrocephalus, Hypoplasia of the maxilla, Malar fl... |
OMIM:109120 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors |
OMIM:601668 |
| Coffin-Siris Syndrome 6 |
|
Retrognathia, Plagiocephaly, Deep philtrum, Micrognathia, Short philtrum, Frontal bossing, Depres... |
OMIM:617808 |
| Developmental And Epileptic Encephalopathy 63 |
|
Long philtrum, Midface retrusion, Thin upper lip vermilion, Cleft palate, Bulbous nose |
OMIM:617976 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Macrocephaly, Microretrognathia, Hypoplasia of the maxilla, Microglossi... |
ORPHA:1307 |
| Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Hypothyroidism, Precocious puberty, Ventriculomegaly, Wide nasal bridge, Micrognat... |
ORPHA:819 |
| Treacher Collins Syndrome 4 |
|
Choanal stenosis, Micrognathia, Microcephaly, Malar flattening, Cleft palate |
OMIM:618939 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Coloboma, Cerebellar hypoplasia, Retinal degeneration, Agyria, Hydro... |
OMIM:615249 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Midface retrusion, Depressed nasal bridge, Lacunar halos around chondrocytes, Malar... |
OMIM:256050 |
| Ring Chromosome 7 Syndrome |
|
Brachycephaly, Plagiocephaly, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Holoprosencephaly... |
ORPHA:1449 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... |
OMIM:615184 |
| Propionic Acidemia |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia |
ORPHA:35 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Wide nasal bridge, Micrognathia, Broad nasal tip, Cryptorchidism |
OMIM:615524 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft lip, Midface retrusion, Bilateral cleft palate, Cryp... |
OMIM:616788 |
| Glass Syndrome |
|
Conical tooth, Micrognathia, Midface retrusion, Smooth philtrum, Cleft palate, Gingival overgrowt... |
OMIM:612313 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Long philtrum, Micrognathia, Relative macrocephaly, Midface... |
OMIM:618529 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, High palate, Primary microcephaly |
OMIM:618010 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Open mouth, Agenesis of corpus callosum, Primary microcephaly |
OMIM:616681 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Biparietal narrowing, Microretrognathia, Hypoplasia of the maxilla, Anteverted nar... |
ORPHA:228396 |
| Marshall Syndrome |
|
Brachycephaly, Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Hypoplas... |
ORPHA:560 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Macrocephaly, Mandibular prognathia, Crowded maxillary incisors |
ORPHA:397973 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, High palate, Microcephaly, Flat occiput, Hypoplasia of the zygomatic bone, Increase... |
ORPHA:319171 |
| Cebalid Syndrome |
|
Brachycephaly, High palate, Depressed nasal ridge, Plagiocephaly, Turricephaly, Midface retrusion... |
OMIM:618774 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Death in infancy, H... |
OMIM:619301 |
| Craniosynostosis 4 |
|
Retrognathia, Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Macrocephaly, M... |
OMIM:600775 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, High palate, Ventriculomegaly, Wide nasal bridge, Short nose, Hypoplasia of the ma... |
OMIM:218000 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachycephaly, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-stimulati... |
OMIM:101800 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Short nose, Hy... |
ORPHA:363417 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Aqueductal stenosis, Proboscis, Hydrocephalus, Macrocephaly, Alobar holoprosenc... |
OMIM:619895 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
| Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Supernumerary nipple, Midface retrusion, Prominent occ... |
OMIM:619122 |
| Tetrasomy 5P |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Preauricular pit, Microgna... |
ORPHA:3309 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia, Wide nasal bridge |
OMIM:262020 |
| Monosomy 5P |
|
High palate, Wide nasal bridge, Microretrognathia, Microcephaly, Preauricular skin tag |
ORPHA:281 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Mandibular prognathia, Plagiocephaly, Long philtrum, Macrocephaly, Midface retrusi... |
OMIM:619721 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Midface retrusion, Thyr... |
ORPHA:861 |
| Band Heterotopia |
|
Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agenesis of corpus cal... |
OMIM:600348 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Coronal craniosynostosis, Oligodontia, Hypoplasia of the maxilla, Aplasia/Hypoplas... |
ORPHA:2095 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Ventriculomegaly, Plagiocephaly, Deep philtrum, Micrognathia, Hydrocephalus, Short n... |
OMIM:619833 |
| Joubert Syndrome 26 |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
OMIM:616784 |
| Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Retrognathia, Microcephaly, Wide nasal bridge |
OMIM:618402 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Microglossia, Agenesis of corpus callosum |
OMIM:616540 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Retrognathia, Micrognathia, Prominent nasal tip, Midface retrusion, Everted lower lip vermilion, ... |
OMIM:617101 |
| Hydrolethalus Syndrome 2 |
|
Cleft palate, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Bifid uvula, Lissencephaly, Iris coloboma, Abnormal optic nerve morphology, Cleft ... |
ORPHA:899 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Agenesis of corpus callosum |
OMIM:619548 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Optic atrophy, Cerebellar hypoplasia, Narrow mouth, Microcephaly, Cer... |
OMIM:600118 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Micrognathia, Hydrocephalus, Macrocephaly, Short nose, Median cleft lip... |
OMIM:241800 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Triangular mouth, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
ORPHA:166024 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Midface retrusion, Short nose, Diabetes mellitus, Depressed nasal bridge, ... |
OMIM:614613 |
| Joubert Syndrome 14 |
|
Meningocele, Morning glory anomaly, Encephalocele, Hypoplasia of the brainstem, Optic atrophy, Co... |
OMIM:614424 |
| Halperin-Birk Syndrome |
|
High palate, Colpocephaly, Optic atrophy, Micrognathia, Semilobar holoprosencephaly, Death in chi... |
OMIM:618651 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Deep philtrum, Esophageal atresia, Micrognathia, Midface retrusion, Short nose, Progressive micro... |
OMIM:610536 |
| Cleidocranial Dysplasia |
|
Brachycephaly, Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Macrocephaly, Midf... |
ORPHA:1452 |
| Sweeney-Cox Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, High palate, Wide anterior fontanel, Wide nasal bridge,... |
OMIM:617746 |
| Pycnodysostosis |
|
Dental malocclusion, Obtuse angle of mandible, Convex nasal ridge, Prominent nose, Enamel hypopla... |
ORPHA:763 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Ventriculomegaly, Bifid uvula, Midface retrusion, Gingival overgrowth, Choanal atresia, Narrow pa... |
OMIM:123790 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Thin upper lip vermilion, Downturned cor... |
ORPHA:521308 |
| 6Q25 Microdeletion Syndrome |
|
High palate, Ventriculomegaly, Wide nasal bridge, Plagiocephaly, Long philtrum, Micrognathia, Mic... |
ORPHA:251056 |
| Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Brachycephaly, Mandibular prognathia, Narrow palate, High palate, Plagiocephaly, Mi... |
OMIM:618644 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Ventriculomegaly, Brachyturricephaly, Pyloric stenosis, Hydrocephalus, Midface ret... |
OMIM:218350 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Hypothyroidism, Ventriculomegaly, Microdontia, Hydrocephalus, Macrocephaly, Supernu... |
ORPHA:1812 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Bifid uv... |
ORPHA:2780 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, Mandibular prognathia, Plagiocephaly, Wide nasal bridge, Aganglionic megacolon, ... |
OMIM:239300 |
| Mental Retardation Syndrome, Belgian Type |
|
Coloboma |
OMIM:249599 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Long philtrum, Short philtrum, Thin upper lip vermilion, Smooth philtrum, Interhypot... |
OMIM:618929 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Micrognathia, Lateral ventricle dilatation, Primary microcephaly |
OMIM:618266 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Turricephaly, Coronal craniosynostosis, Macrocephaly, Hyd... |
OMIM:616294 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Long philtrum, Anteverted nares |
ORPHA:324422 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Micrognathia, Midface retrusion, Hypoplasia of the maxilla, Microcephaly, Aplastic ... |
OMIM:616462 |
| Hydrolethalus |
|
Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Hydrocephalus, Submucou... |
ORPHA:2189 |
| Catifa Syndrome |
|
Mild microcephaly, Long philtrum, Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft p... |
OMIM:618761 |
| Mosaic Trisomy 14 |
|
High palate, Wide nasal bridge, Ectopic anus, Wide mouth, Micrognathia, Frontal bossing, Antevert... |
ORPHA:1703 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Joubert Syndrome 16 |
|
Retinal dystrophy, Encephalocele, Coloboma, Dandy-Walker malformation |
OMIM:614465 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Glycogen Storage Disease Iii |
|
Midface retrusion, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Thin vermil... |
OMIM:232400 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Macrocephaly, Notched primary central incisor, Microcephaly |
OMIM:620062 |
| Craniolenticulosutural Dysplasia |
|
Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Prominent nasal bri... |
ORPHA:50814 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Frontorhiny |
|
Diabetes insipidus, Bifid tongue, Midline nasal groove, Cranium bifidum occultum, Encephalocele, ... |
ORPHA:391474 |
| Aicardi Syndrome |
|
Cleft upper lip, Precocious puberty, Plagiocephaly, Ventriculomegaly, Malabsorption, Prominence o... |
ORPHA:50 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Coloboma |
ORPHA:141333 |
| 3Q13 Microdeletion Syndrome |
|
Long philtrum, Agenesis of corpus callosum |
ORPHA:1621 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma |
OMIM:602499 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Short nose, Frontal bossing, ... |
ORPHA:166272 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Oligodontia, Midface r... |
OMIM:617061 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Widely spaced teeth, Wide ... |
OMIM:618067 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Full cheeks, Glossoptosis |
OMIM:615706 |
| Raine Syndrome |
|
Brachycephaly, Plagiocephaly, Micrognathia, Microdontia, Midface retrusion, Cleft palate, Gingiva... |
OMIM:259775 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Brachycephaly, High palate, Micrognathia, Depressed nasal bridge, Microcephaly, Age... |
OMIM:618142 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, High palate, Micrognathia, Microcephaly, Cryptorchidism |
OMIM:611890 |
| Temple Syndrome |
|
Wide nose, Precocious puberty, High palate, Decreased testicular size, Micrognathia, Hydrocephalu... |
OMIM:616222 |
| Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Midface retrusion, Frontal bossing, Short nose, Anteverted nares, Malar flattening |
OMIM:614524 |
| X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Mandibular prognathia, Lateral ventricle dilatation, Wide mouth, Hydrocele testis,... |
ORPHA:85290 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
ORPHA:85179 |
| Diastrophic Dysplasia |
|
Micrognathia, Macrocephaly, Midface retrusion, Depressed nasal bridge, Full cheeks, Cryptorchidis... |
ORPHA:628 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Midface retrusion, Short philtrum, Downturned corners of mouth, Tooth agenesis, Mi... |
OMIM:618731 |
| Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Abnormality of thalamus morphology, Wide nasal bridge, Microdont... |
ORPHA:557003 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Retrognathia, Cleft palate, Thin vermilion border |
ORPHA:2631 |
| Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Ventriculomegaly, Wide nasal bridge, Primary micro... |
OMIM:618804 |
| Trisomy 18 |
|
Non-midline cleft lip, Narrow palate, Esophageal atresia, Spina bifida, Anencephaly, Dolichocepha... |
ORPHA:3380 |
| Dystonia 30 |
|
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... |
OMIM:619291 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Midface retrusion, Short nose, Spina bifida oc... |
OMIM:617877 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Optic atrophy, Agyria, Hydrocephalus, Hypoplasia of the pyramidal tract, Lissencep... |
OMIM:253800 |
| Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Abnormal nasal morphology, Micrognathia, Hypoplasia of the max... |
ORPHA:245 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus... |
ORPHA:397725 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Retrognathia, High palate, Wide nasal bridge, Micrognathia, Frontal bossing, Microcephaly, Crypto... |
ORPHA:98791 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Widely spaced teeth, Dolichocephaly, Midface retrusion, Depressed nasal bridge... |
OMIM:617102 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Coloboma |
OMIM:610023 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Wide nasal bridge, Micrognathia, Submucous cleft hard palate, Midface retrusion, Dep... |
OMIM:222765 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Keipert Syndrome |
|
Wide nose, Thick upper lip vermilion, Prominent nose, Macrocephaly, Midface retrusion, Downturned... |
OMIM:301026 |
| Orofaciodigital Syndrome Xvii |
|
Retrognathia, Prominent nose, Ventriculomegaly, Median cleft lip, High, narrow palate |
OMIM:617926 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Micrognathia, Narrow mouth, Microcephaly, Cleft palate, Bulbous nose, Malar fl... |
ORPHA:93946 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Retrognathia, Absence of secondary sex characteristics, Decreased testicular size, Type II diabet... |
ORPHA:163976 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Wide nose, Retrognathia, High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Full c... |
OMIM:272430 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Hydrocephalus, Macrocephaly, Frontal bossing, Bulbous nose, Colpocephaly |
ORPHA:2185 |
| Kleefstra Syndrome 2 |
|
Plagiocephaly, Bifid uvula, Midface retrusion, Everted lower lip vermilion, Microcephaly |
OMIM:617768 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| 2Q24 Microdeletion Syndrome |
|
Cleft palate, Coloboma, Short philtrum, Abnormal oral frenulum morphology |
ORPHA:1617 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Ventriculomegaly, Wide nasal bridge, Long philtrum, Wide mouth, Micrognathia, Midface retrusion, ... |
OMIM:618659 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly, Micrognathia, Midface retrusion, Short philtrum, Partial agenesis of the corpus... |
OMIM:619074 |
| Even-Plus Syndrome |
|
Brachycephaly, High palate, Depressed nasal ridge, Hypodontia, Midface retrusion, Anal atresia, S... |
OMIM:616854 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Cerebellar hypoplasia, Death in infancy, Agyria, Lissencephaly, Downturned corners of mouth, Micr... |
OMIM:616342 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short nose, Hypoplasia of the maxilla, Progressive microcephaly, Cleft palate |
OMIM:614261 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Macrocephaly, Dolichocephaly, Microre... |
OMIM:220220 |
| Kleefstra Syndrome 1 |
|
Brachycephaly, Mandibular prognathia, Natal tooth, Midface retrusion, Macroglossia, Everted lower... |
OMIM:610253 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Pierre-Robin sequence, Macrodontia of permanent maxillary central inci... |
OMIM:154780 |
| Jacobsen Syndrome |
|
Micrognathia, Pyloric stenosis, Hydrocephalus, Macrocephaly, Annular pancreas, Short nose, Depres... |
OMIM:147791 |
| Pde4D Haploinsufficiency Syndrome |
|
Brachycephaly, Thickened calvaria, Mandibular prognathia, Prominent nose, Long philtrum, Microgna... |
ORPHA:439822 |
| Gaba-Transaminase Deficiency |
|
Retrognathia, Agenesis of corpus callosum |
OMIM:613163 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Cleft upper lip, High palate, Preauricular pit, Abnormality of dental morphology, ... |
OMIM:612582 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Optic nerve hypoplasia, Spina bifida occ... |
OMIM:618736 |
| Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ... |
OMIM:619736 |
| Basilicata-Akhtar Syndrome |
|
Retrognathia, Choanal stenosis, Precocious puberty, Ventriculomegaly, Dolichocephaly, Wide nasal ... |
OMIM:301032 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Hypoplasia of the corpus callosum, Downturned corners of mouth, Dandy-Walker malformation, Agenes... |
ORPHA:262767 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Hypoplasia of the frontal bone, Cleft upper lip, Craniu... |
OMIM:229400 |
| Isotretinoin Syndrome |
|
Micrognathia, Biparietal narrowing, Spina bifida occulta, Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Midface retrusion, Microcephaly, Short nose |
OMIM:618379 |
| Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Holoprosencephaly, Cleft palate, Optic disc coloboma, Polymicrogyria,... |
OMIM:615948 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Convex nasal ridge, Ventriculomegaly, Long philtrum, Prominent nasal tip, Macrocephaly, Midface r... |
OMIM:618870 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Microcephaly, Cerebral atrophy, Hypop... |
ORPHA:255182 |
| Rapp-Hodgkin Syndrome |
|
Underdeveloped nasal alae, Enamel hypoplasia, Conical tooth, Cleft upper lip, Microdontia, Veloph... |
OMIM:129400 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Brachycephaly, Convex nasal ridge, Wide anterior fontane... |
OMIM:263210 |
| Lethal Congenital Contracture Syndrome 11 |
|
Retrognathia |
OMIM:617194 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Prominent nose, Screwdriver-shaped incisors, Mulberry molar, Dia... |
OMIM:302350 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Retrognathia, Brachycephaly, High palate, Ventriculomegaly, Wide nasal bridge, Long philtrum, Thi... |
OMIM:617452 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract ... |
OMIM:614069 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Retrognathia, High palate, Long philtrum, Microcephaly, Anteverted nares |
OMIM:619026 |
| Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Aplasia of the nasal bone, Convex nasal ridge, Elevated circulating thyroid-stimula... |
OMIM:601812 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lobulated tongue, Ventriculomegaly, Lateral ventricle dilatation, Short... |
OMIM:613443 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Plagiocephaly, Deep philtrum, Microdontia, Diastema, Cleft palate |
OMIM:605282 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Thin corpus callosum, Retinal pigment epithelial mottling, Thin upp... |
OMIM:619517 |
| Anauxetic Dysplasia 3 |
|
Retrognathia, Plagiocephaly, Wide anterior fontanel, Oligodontia, Midface retrusion, Depressed na... |
OMIM:618853 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly, Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent ma... |
ORPHA:364028 |
| Intellectual Disability, Wolff Type |
|
Non-midline cleft lip, Wide nasal bridge, Thick lower lip vermilion, Microretrognathia, Abnormal ... |
ORPHA:3080 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Micrognathia, Midface retrusion, Frontal bossing, Short nose, Thin calvarium |
ORPHA:1129 |
| Split Lower Lip |
|
Narrow maxilla, Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition |
OMIM:183400 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Underdeveloped nasal alae, Precocious puberty, Widely-spaced incisors, Midface retrusion, Dolicho... |
OMIM:300801 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Abnormal palate morphology, Iris coloboma, Chorioretinal coloboma, Cleft palate, Malar ... |
ORPHA:921 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Retrognathia, Prominent nose, Brachyturricephaly, Everted lower lip vermilion |
OMIM:300280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, Micrognathia, Midface retrusi... |
ORPHA:1727 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Abnormality of the philtrum, Mandibular prognathia, Plagiocephaly, Hypoplasia of t... |
ORPHA:2673 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Narrow nasal ridge, Long philtrum, Hydrocephalus, Midface retrusion, Frontal bossing... |
OMIM:612940 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Hypothyroidism, Mandibular prognathia, Prominent nasolabial fold, Macrocephaly, Sho... |
ORPHA:391372 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, High palate, Short lingual frenulum, Thick lower lip vermilion, Epistaxis, Hypopl... |
ORPHA:293939 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Smith-Kingsmore Syndrome |
|
Wide anterior fontanel, Wide mouth, Long philtrum, Macrocephaly, Midface retrusion, Short nose, F... |
OMIM:616638 |
| 16Q24.3 Microdeletion Syndrome |
|
High palate, Ventriculomegaly, Long philtrum, Wide mouth, Micrognathia, Thick vermilion border, B... |
ORPHA:261250 |
| Chromosome 13Q14 Deletion Syndrome |
|
High palate, Deep philtrum, Micrognathia, Dolichocephaly, Supernumerary nipple, Frontal bossing, ... |
OMIM:613884 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Diabetes insipidus, High palate, Long philtrum, Semilobar holoprosencephaly, ... |
OMIM:618500 |
| Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Long philtrum, Wide nasal bridge, Preauricular pit, Micrognathia, Short philtrum,... |
OMIM:301022 |
| Coffin-Lowry Syndrome |
|
Wide nose, Narrow palate, Ventriculomegaly, High palate, Delayed eruption of teeth, Widely spaced... |
ORPHA:192 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Hyperthyroidism, Prominent frontal sinuses, Preauricular pit, Mic... |
OMIM:170390 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Iris coloboma, A... |
ORPHA:77298 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hy... |
ORPHA:2822 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Syncope, Maternal diabetes... |
ORPHA:276580 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth, Convex nasal ridge |
OMIM:614564 |
| Cog7-Cdg |
|
Retrognathia, Primary microcephaly, Micrognathia, Progressive microcephaly, Narrow mouth |
ORPHA:79333 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Cerebellar hypoplasia, Anal atresia, Hypoplasia of the pons, Microcephaly, Hypoplasia o... |
OMIM:617695 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Pallister-Hall Syndrome |
|
Cleft upper lip, Precocious puberty, Decreased response to growth hormone stimulation test, Natal... |
OMIM:146510 |
| Chromosome 9P Deletion Syndrome |
|
Retrognathia, Narrow palate, High palate, Wide nasal bridge, Long philtrum, Deep philtrum, Microg... |
OMIM:158170 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Wide nasal bridge, Hypogonadism, Micrognathia, Abnormality of dental morphology,... |
ORPHA:3253 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Non-midline cleft lip, Encephalocele, Depressed nasal ridge, Midface retrusion, Sh... |
ORPHA:1791 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Depressed nasal ridge, Long philtrum, Pseudohypoparathyroidism, Microcephaly, Antev... |
ORPHA:464288 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Micrognathia, Malar flattening, Cleft palate |
OMIM:183700 |
| 2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, Convex nasal ridge, High palate, Long philtrum, Decreased testicular size, Microgn... |
ORPHA:251019 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Dental malocclusion, Thick upper lip vermilion, Mild microcephaly, Ventriculomegaly... |
ORPHA:363444 |
| Blepharophimosis With Facial And Genital Anomalies And Mental Retardation |
|
Retrognathia, High palate, Narrow palate, Long philtrum, Midface retrusion, Supernumerary nipple,... |
OMIM:604314 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Thin upper lip vermilion, Depressed nasal bridge, Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Biparietal narrowing, Midface retrusion, Abnormal upper lip morp... |
ORPHA:2836 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Macrocephaly, Depressed nasal bridge, ... |
OMIM:614219 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Optic atrophy, Death in infancy, Spina bifida, Lissencephaly, Microcephaly, Ag... |
ORPHA:99742 |
| Miller-Dieker syndrome (MDS) |
|
Midface retrusion, Microcephaly, Frontal bossing |
DECIPHER:21 |
| Bangstad Syndrome |
|
Retrognathia, Primary gonadal insufficiency, Convex nasal ridge, Insulin-resistant diabetes melli... |
OMIM:210740 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Primary microcephaly, Micrognathia, Depressed nasal bridge, Cranios... |
ORPHA:284417 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequenc... |
ORPHA:364577 |
| Meckel Syndrome 14 |
|
Retrognathia, Micrognathia, Microretrognathia, Holoprosencephaly, Decreased calvarial ossificatio... |
OMIM:619879 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Anterior hypopituitarism, Cleft palate, Cleft upper lip, Dysplastic corpus callosum |
OMIM:601016 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Jejunal atresia, Long philtrum, Micrognathia, Macrocephaly, Short nose... |
OMIM:618820 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, High palate, Microcephaly, Optic atrophy |
OMIM:245349 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Wide nose, Mandibular prognathia, Cleft ala nasi, Decreased testicular size, Narrow nasal base, B... |
ORPHA:3044 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Brachycephaly, High palate, Wide nasal bridge, Widely spaced teeth, Macrocephaly, Midface retrusi... |
OMIM:300260 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, De... |
ORPHA:280679 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Brachycephaly, Ventriculomegaly, Long philtrum, Micrognathia, Agenesis of corpus callo... |
OMIM:257300 |
| Radio-Tartaglia Syndrome |
|
Retrognathia, Precocious puberty, High palate, Long philtrum, Wide nasal bridge, High, narrow pal... |
OMIM:619312 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Wide nasal bridge, Short nose, Thin upper lip vermilion, Tented upp... |
OMIM:615716 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Encephalocele, Hydrocephalus, Anal atresia, Median cleft lip and palate, Holopro... |
OMIM:264480 |
| Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Retinal vascular tortuosity, Hydrocephalus, O... |
OMIM:243605 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing |
OMIM:190320 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Retrognathia, Brachycephaly, High palate, Ventriculomegaly, Long philtrum, Thin upper ... |
ORPHA:505237 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Micrognathia, Cleft palate, Trigonocephaly |
ORPHA:1779 |
| Carpenter Syndrome 1 |
|
Brachycephaly, Sagittal craniosynostosis, Precocious puberty, High palate, Coronal craniosynostos... |
OMIM:201000 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Micrognathia, Midface retrusion, Cleft palate, Unilateral cryptorchidism |
OMIM:300946 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
| Peho Syndrome |
|
Retrognathia, Short nose, Progressive microcephaly, Full cheeks, Tented upper lip vermilion, Open... |
OMIM:260565 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Retrognathia, Wide mouth, Micrognathia, Microcephaly, Dysplastic corpus callosum, Prominent nasal... |
OMIM:604273 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Coronal craniosynostosis, Micrognathia, Microdontia, Hydrocephalus, Mi... |
OMIM:112240 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Dolichocephaly, Wide nasal bridge |
OMIM:167730 |
| 9q subtelomeric deletion syndrome |
|
Midface retrusion, Short nose, Protruding tongue, Microcephaly, Anteverted nares |
DECIPHER:52 |
| Myopathy, Centronuclear, 5 |
|
Retrognathia, High palate, Micrognathia, Bifid uvula, Narrow mouth |
OMIM:615959 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Brachycephaly, Micrognathia, Microdontia, Midface retrusion, Everted lower lip vermilion, Promine... |
OMIM:156200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum, Optic atrophy |
OMIM:618238 |
| Larsen-Like Syndrome |
|
Brachycephaly, Dental malocclusion, Wide anterior fontanel, Absent nasal bridge, Macrocephaly, Fr... |
OMIM:608545 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cleft pala... |
OMIM:164180 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Wide nasal bridge, Hypodontia, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Fetal Akinesia Deformation Sequence 2 |
|
High palate, Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Cryptorchidism, Cleft p... |
OMIM:618388 |
| Elsahy-Waters Syndrome |
|
Brachycephaly, Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula... |
OMIM:211380 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
High palate, Abnormal globus pallidus morphology, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:618603 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Choanal stenosis, Wide anterior fontanel, Long philtrum, Coronal craniosynostosis,... |
OMIM:207410 |
| Meier-Gorlin Syndrome 6 |
|
Underdeveloped nasal alae, Decreased response to growth hormone stimulation test, Depressed nasal... |
OMIM:616835 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, High palate, Wide mouth, Micrognathia, Midface retrusion, Short philtr... |
OMIM:300986 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microdontia, Optic disc hypoplasia, Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus... |
OMIM:619955 |
| Glycine Encephalopathy |
|
Agenesis of corpus callosum, Death in infancy |
OMIM:605899 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Stomach cancer, Hypothyroidism, Depressed nasal ridge, Ventriculomegaly, Micrognathia,... |
ORPHA:1052 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Ventriculomegaly, Wide nasal bridge, Thyroid lymphangiectasia, Micrognathia, Midface... |
OMIM:235255 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge,... |
OMIM:601390 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Retrognathia, Plagiocephaly, Esophageal atresia, Preauricular pit, Submucous cleft har... |
OMIM:619227 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Pierre-Robin sequence, Micrognathia, Midface retrusion, Depressed nasal bridge, Anteverted nares,... |
OMIM:215150 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy |
OMIM:258320 |
| Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Micrognathia, Bifid uvula, Submucous cleft hard palate, Midface retrusion,... |
OMIM:108300 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Optic atrophy, Short philtrum, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth... |
OMIM:618346 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Optic nerve hypoplasia, Narrow mouth, Microcephaly, Dysplastic corpus callosum, Ag... |
OMIM:614833 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Abnormal periventricular white matter mor... |
OMIM:604360 |
| Tetraploidy |
|
Convex nasal ridge, Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal narrowing, Short p... |
ORPHA:3305 |
| Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Convex nasal ridge, Delayed eruption of teeth, Midface retrusion, Lambdoidal crani... |
OMIM:614188 |
| Apert Syndrome |
|
Brachycephaly, Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Bifid uvula, Midface re... |
OMIM:101200 |
| Hypotonia-Cystinuria Syndrome |
|
Retrognathia, Dolichocephaly, Frontal bossing |
ORPHA:163690 |
| Frontonasal Dysplasia 2 |
|
Brachycephaly, Conical tooth, Aplasia of the nasal bone, Wide nasal bridge, Broad columella, Depr... |
OMIM:613451 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Plagiocephaly, Micrognathia, Decreased calvarial ossification, Trigonocephaly, Clef... |
OMIM:618265 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Retrognathia, Umbilical hernia, Narrow palate, Wide nasal bridge, Delayed eruption of teeth, Thyr... |
OMIM:235510 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High palate, Wide nasal bridge, Micrognathia, Midface retrusion, Downturned corners of mouth, Alv... |
OMIM:620070 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
| Cowden Syndrome 5 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:615108 |
| Craniofacial-Deafness-Hand Syndrome |
|
Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening |
OMIM:122880 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge,... |
OMIM:615546 |
| Bainbridge-Ropers Syndrome |
|
Precocious puberty, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Supernumerary ... |
OMIM:615485 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Hypodontia... |
OMIM:619322 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Cerebral dysmyelination, Microcephaly, Dysplastic corpus cal... |
OMIM:252650 |
| Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Bilateral choanal atresia/sten... |
OMIM:608572 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Retrognathia, High palate, Wide nasal bridge, Bulbous nose, Hydrocele ... |
OMIM:619493 |
| Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Arrhinencephaly, Cleft palate, Occipital encephalocele, Agenesis ... |
OMIM:614815 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Relative macrocephaly, Mandibular prognathia, Midface retrusion, Absent nasal bridge |
ORPHA:171866 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Plagiocephaly, Lateral ventricle dilatation, Wide anterior fontanel, Long philtrum, ... |
ORPHA:457279 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Ventriculomegaly, Lateral ventricle dilatation, Micrognathia, Macrocephaly, Midface retrusion, Sp... |
OMIM:618291 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Microdontia, Depressed nasal tip, Cleft palate, Choanal atresia, Absenc... |
OMIM:129900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Decreased testicular size, Micrognathia, Macrocephaly, Diaste... |
OMIM:300534 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Midface retrusion, Depressed nasal ridge |
OMIM:118651 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Convex nasal ridge, High palate, Micrognathia, Prominence of the premaxilla, Depressed nasal brid... |
OMIM:614437 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Plagiocephaly, Ectopic anus, Short philtrum, Downturned corners of mouth, ... |
ORPHA:94066 |
| Microphthalmia With Limb Anomalies |
|
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Arrhinen... |
ORPHA:1106 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Cleft upper lip, Wide nasal bridge, Selective tooth agenesis, Widely spaced teeth,... |
OMIM:106260 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Retrognathia, Brachycephaly, Wide mouth, Micrognathia, Abnormal lip morphology, Microdontia, Shor... |
ORPHA:2707 |
| 16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Wide mouth, B... |
ORPHA:485405 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Death in infancy, Agyria, Hydr... |
OMIM:614643 |
| Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Secondary microcephaly, Retrobulbar optic neuritis, Periventricular white matt... |
OMIM:619737 |
| Chromosome 18Q Deletion Syndrome |
|
Choanal stenosis, Mandibular prognathia, Prominent nose, Ventriculomegaly, Decreased response to ... |
OMIM:601808 |
| Gapo Syndrome |
|
Mandibular prognathia, Long philtrum, Hypogonadism, Delayed eruption of teeth, Micrognathia, Midf... |
ORPHA:2067 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Lateral ventricle dilatation, Short philtrum, Short nose, Frontal bos... |
OMIM:614105 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, High palate, Macrocephaly, Cleft palate, Prominent nasal bridge, Agenesis of corpus... |
ORPHA:52055 |
| Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Single naris, High palate, Ventriculomegaly, Long philtrum, ... |
ORPHA:141099 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Short nose, Hypoplasia of the maxill... |
OMIM:608156 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Narrow palate, High palate, Brachyturricephaly, Wide anterior fontanel, Micr... |
OMIM:182212 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... |
OMIM:618325 |
| Martsolf Syndrome 1 |
|
Brachycephaly, Enlarged sylvian cistern, High palate, Ventriculomegaly, Long philtrum, Micrognath... |
OMIM:212720 |
| Malan Overgrowth Syndrome |
|
Scaphocephaly, High palate, Ventriculomegaly, Lateral ventricle dilatation, Plagiocephaly, Macroc... |
ORPHA:420179 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Coloboma, Optic atrophy, Retinal atrophy, Meningoencephalocele, Optic nerve hypoplasia, Type II l... |
OMIM:236670 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Coronal craniosynostosis, Micrognathia, Midface retrusion, Decreased calvarial ossif... |
OMIM:614592 |
| Short Syndrome |
|
Abnormal mandible morphology, Wide nasal bridge, Microdontia, Midface retrusion, Diabetes mellitu... |
ORPHA:3163 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Macrocephaly, Midface retrusion, Short nose, Intestinal malrotation, Depr... |
OMIM:222448 |
| Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Agenes... |
OMIM:615665 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Absent nasal bridge, Relative macrocephaly, Midface retrusion, Malar flatt... |
OMIM:612813 |
| Weaver Syndrome |
|
Retrognathia, Long philtrum, Deep philtrum, Micrognathia, Macrocephaly, Cryptorchidism |
ORPHA:3447 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Abnormal mandible morphology, Plagiocephaly, Prominence of the zygomatic bone, Long philtrum, Adv... |
ORPHA:2215 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Poikiloderma With Neutropenia |
|
Underdeveloped nasal alae, Retrognathia, Long philtrum, Micrognathia, Midface retrusion, Recurren... |
OMIM:604173 |
| Iniencephaly |
|
Mandibular aplasia, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly... |
ORPHA:63259 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Pierre-Robin sequence, Wide nasal bridge, Lateral ventricle dilatation, Long philtru... |
OMIM:611209 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Retrognathia, Abnormal nostril morphology, Decreased response to growth hormone stimul... |
OMIM:300845 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Lobulated tongue, Prominent nose, Bifid tongue, Natal tooth, Encephalocele, Relative macrocephaly... |
OMIM:616300 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Microcephaly |
ORPHA:1445 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age... |
OMIM:307000 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Retrognathia, Brachycephaly, High palate, Ventriculomegaly, Wide nasal bridge, Hypogonadism, Decr... |
OMIM:612513 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Retinal coloboma, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Polymic... |
ORPHA:220493 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Retrognathia, High palate, Ventriculomegaly, Microcephaly |
OMIM:615330 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Retrognathia, Convex nasal ridge, Cryptorchidism |
OMIM:210700 |
| Desmosterolosis |
|
Retrognathia, Ventriculomegaly, Micrognathia, Hydrocephalus, Bifid uvula, Submucous cleft hard pa... |
ORPHA:35107 |
| Marshall-Smith Syndrome |
|
Retrognathia, Ventriculomegaly, Gingival overgrowth, Short nose, Protruding tongue, Anteverted na... |
ORPHA:561 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Coloboma, Optic atrophy, Micrognathia, Broad alveolar ridges, Hypoplastic anterior c... |
OMIM:616975 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, High palate, Long philtrum, Midface retrusion, Frontal bossing, Short nose, Narrow... |
OMIM:615539 |
| Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Postauricular skin tag, Macroce... |
OMIM:602483 |
| Greenberg Dysplasia |
|
Calvarial skull defect, Micrognathia, Midface retrusion |
ORPHA:1426 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cranium bifidum occultum, Wide nasal b... |
ORPHA:306542 |
| Microcephaly, Amish Type |
|
Optic atrophy, Primary microcephaly, Cerebellar hypoplasia, Hypoplasia of the fovea, Partial agen... |
OMIM:607196 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Micrognathia, Frontal bossing, Depressed nasal bridge, Microcephaly, Cleft palate, Malar flattening |
OMIM:215100 |
| Cole-Carpenter Syndrome |
|
Turricephaly, Delayed eruption of teeth, Micrognathia, Communicating hydrocephalus, Midface retru... |
ORPHA:2050 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, High palate, Anal atresia, Short nose, Intestinal malrotation, Frontal bossing, D... |
OMIM:617602 |
| Intellectual Developmental Disorder, X-Linked 108 |
|
Thin upper lip vermilion, Midface retrusion, Long philtrum |
OMIM:301024 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Orofaciodigital Syndrome X |
|
Retrognathia, Cleft palate, Depressed nasal bridge |
OMIM:165590 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Frontal bossing, Den... |
ORPHA:313892 |
| Cowden Syndrome 6 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:615109 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Midface retrusion, Frontal bossing, Cleft palate, Glossoptosis |
ORPHA:440354 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Lateral ventricle dilatation, Downturned corners of mouth, Thin vermilion ... |
OMIM:301025 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Midface retrusion, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Srd5A3-Cdg |
|
Rod-cone dystrophy, Decreased response to growth hormone stimulation test, Coloboma, Optic atroph... |
ORPHA:324737 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Optic atrophy, Coloboma, Bifid uvula, Abnormal oral frenulum morphol... |
OMIM:200990 |
| Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, High palate, Scaphocephaly, Wide nasal bridge, Macrocephaly, Microretrogna... |
ORPHA:397612 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Retrognathia, Gingival overgrowth, High palate, Smooth philtrum |
OMIM:619422 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Microcephaly, Widely-spaced maxillary central incisors, C... |
OMIM:601349 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Retrognathia, High palate, Thick vermilion border, Secondary microcephaly, Partial agenesis of th... |
OMIM:620113 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Unilateral cleft palate, Bifid uvula, Abnormal midface morphology, Absent nipple, ... |
ORPHA:1299 |
| Coffin-Siris Syndrome 3 |
|
Wide nose, High palate, Long philtrum, Wide mouth, Macroglossia, Depressed nasal bridge, Delayed ... |
OMIM:614608 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Hydrocephalus, Anal atresia, Iris coloboma, Narrow mouth, A... |
ORPHA:3301 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate, Abnormality of retinal pigmentation |
ORPHA:1681 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Retrognathia, Micrognathia, High palate, Dental crowding |
OMIM:617468 |
| Johnson Neuroectodermal Syndrome |
|
Retrognathia, Choanal stenosis, Decreased testicular size, Hypogonadotropic hypogonadism, Anosmia... |
OMIM:147770 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Tooth agenesis, Midface retrusion, Frontal bossing |
OMIM:600204 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Long philtrum, Hypoplasia of the maxilla, Progressive microcephaly, Anteverted nares... |
ORPHA:481152 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia... |
ORPHA:220497 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis, Choanal atresia |
OMIM:612247 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Brachycephaly, High palate, Wide nasal bridge, Lateral ventricle dilatation, Low inser... |
OMIM:619995 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Wide anterior fontanel, Micrognathia, Depressed nasal bridge, Microcephaly, Cleft pa... |
ORPHA:3098 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Dental malocclusion, Bifid tongue, Long philtrum, Wide nasal bridge, Micrognathia, Macrocephaly, ... |
OMIM:616894 |
| 15Q Overgrowth Syndrome |
|
Retrognathia, Mandibular prognathia, High palate, Turricephaly, Wide nasal bridge, Abnormality of... |
ORPHA:314585 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Malar flattening |
OMIM:611867 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Thin upper lip vermilion, Microcephaly, Pachygyria, Agenesis of ... |
ORPHA:2512 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Hypogonadism, Decreased testicular size, Midface retrusion, Dolichocephaly, Short ph... |
ORPHA:3041 |
| Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Ventriculomegaly, Wide nasal bridge, Macrodontia of permanent maxillary cent... |
ORPHA:444072 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge, Agenesis of corpus callosum, Cerebellar ... |
OMIM:617127 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Primary microcephaly, Hyperintensity of cerebral white ... |
ORPHA:500144 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Septo-optic... |
ORPHA:95494 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Optic disc pallor, Attenuation of retinal blood vessels, Optic n... |
ORPHA:468631 |
| 2Q23.1 Microduplication Syndrome |
|
Prominent nose, Wide mouth, Prominent nasal tip, Midface retrusion, Thin upper lip vermilion, Den... |
ORPHA:313947 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Brachycephaly, Precocious puberty, Plagiocephaly, Ventriculomegaly, Natal tooth, Thick lower lip ... |
ORPHA:261652 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Widely spaced teeth, Midface retrusion, Dental crowding, Short philtrum, Short nose... |
OMIM:301044 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Cleft palate |
ORPHA:166100 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Brachycephaly, Wide mouth, Gingival overgrowth, Macrocephaly, Diastema, Everted low... |
OMIM:212066 |
| Angelman Syndrome |
|
Brachycephaly, Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia o... |
OMIM:105830 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Retrognathia, Micrognathia, Depressed nasal bridge |
ORPHA:1899 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Retinal dystrophy, Inferior cerebellar vermis hypoplasia, Iris coloboma, Microcephal... |
ORPHA:139471 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Retrognathia, High palate |
OMIM:161800 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, High palate, Ventriculomegaly, Plagiocephaly, Pierre-Robin sequence, Micrognathia, ... |
OMIM:254940 |
| Auriculocondylar Syndrome |
|
Dental malocclusion, Difficulty in tongue movements, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Dolichocephaly, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, R... |
ORPHA:2399 |
| King-Denborough Syndrome |
|
Scaphocephaly, High palate, Deep philtrum, Bilateral cryptorchidism, Midface retrusion, Broad nas... |
OMIM:619542 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Short philtrum, Midface retrusion, Frontal bossing |
OMIM:614257 |
| 20Q11.2 Microdeletion Syndrome |
|
Short philtrum, Midface retrusion, Frontal bossing |
ORPHA:444051 |
| Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, Decreased testicular size, Short philtrum, Anal atresia, B... |
ORPHA:3242 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Precocious puberty, High palate, Micrognathia, Pyloric stenosis, Bifid uvula, Short ph... |
ORPHA:96184 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Lateral ventricle dilatation, Micrognathia, Macrocephaly, Frontal bossing, Subependymal cysts |
OMIM:600721 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Preauricular pit, Micrognathia, Abnormal periauricular region morpholo... |
ORPHA:2516 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Depressed nasal ridge, Widely spaced teeth, Macrocephaly, Midface retrusio... |
OMIM:248500 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Convex nasal ridge, Narrow palate, Plagiocephaly, Prominent crus of helix, Cranios... |
ORPHA:794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Wide mouth, Macrocephaly, Midface retrusion, Depressed nasal bridge, Downturned corners of mouth,... |
OMIM:300860 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Long philtrum, Coloboma, Decreased response to growth hormone stimulation test,... |
ORPHA:94065 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Thick upper lip vermilion, High palate, Lateral ventricle dilatation, Volvulus, Macrodontia, Shor... |
OMIM:618606 |
| Short Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Wide nasal bridge, Delayed eruption of teeth, Mic... |
OMIM:269880 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Ventriculomegaly, Mic... |
ORPHA:314679 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
| Steinfeld Syndrome |
|
Bifid uvula, Median cleft lip and palate, Holoprosencephaly, Iris coloboma, Retinal coloboma |
OMIM:184705 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Lateral ventricle dilatation, Oligodontia, Frontal bossing, Thin upper lip vermili... |
OMIM:618330 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, High, narrow palate, Micrognathia, Gingival overgrowth, Short p... |
ORPHA:193 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Dilated third ventricle, High palate, Prominent nose, Lateral ventricle dilatation... |
OMIM:619244 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Micrognathia, Short nose, Recurrent upper... |
ORPHA:3078 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Retrognathia, Wide nasal bridge, Micrognathia, Hypodontia, Short philt... |
OMIM:613026 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation, Hyd... |
OMIM:225790 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Micrognathia, Bifid uvula, Everted lower lip vermilion, Alveolar ri... |
ORPHA:177907 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Convex nasal ridge, Turricephaly, Micrognathia, Short nose, Cleft palate, Malar fl... |
ORPHA:2145 |
| Wieacker-Wolff Syndrome |
|
Retrognathia, High palate, Long philtrum, Micrognathia, Broad alveolar ridges, Microcephaly, Ante... |
OMIM:314580 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Retrognathia, Thin upper lip vermilion, Prominent nose, Long philtrum |
OMIM:619691 |
| Temtamy Syndrome |
|
Long philtrum, Thick corpus callosum, Iris coloboma, Chorioretinal coloboma, Dental crowding, Hyp... |
OMIM:218340 |
| 1Q44 Microdeletion Syndrome |
|
High palate, Optic disc hypoplasia, Hydrocephalus, Intestinal malrotation, Microcephaly, Smooth p... |
ORPHA:238769 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Brachycephaly, Plagiocephaly, Micrognathia, Midface retrusion, Hydrocephalus, Frontal bossing, Fu... |
OMIM:619512 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Midface retrusion, Cleft palate, Malar flattening |
OMIM:224400 |
| Alexander Disease Type I |
|
Hydrocephalus, Rosenthal fibers, Abnormal cerebral white matter morphology, Focal T2 hyperintense... |
ORPHA:363717 |
| Shprintzen-Goldberg Syndrome |
|
Retrognathia, Ventriculomegaly, Craniosynostosis, Micrognathia, Communicating hydrocephalus, Doli... |
ORPHA:2462 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Breast aplasia, Frontal bossing, Hypoplasia of the maxilla, Sin... |
ORPHA:238468 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Aganglionic megacolon, Hypodontia, Bifid uvula, Anky... |
OMIM:174300 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Hypothyroidism, Wide anterior fontanel, Macroglossia, Decreased thyroid-stimulating hormone level... |
OMIM:275100 |
| Lissencephaly 6 With Microcephaly |
|
Wide mouth, Widely spaced teeth, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Thi... |
OMIM:616212 |
| Cranioectodermal Dysplasia |
|
Microdontia, Hypodontia, Taurodontia, Dolichocephaly, Prominent occiput, Frontal bossing, Everted... |
ORPHA:1515 |
| Andersen-Tawil Syndrome |
|
Hyperaldosteronism, Scaphocephaly, High palate, Wide nasal bridge, Micrognathia, Oligodontia, Hyp... |
ORPHA:37553 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum |
OMIM:619466 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Cleft upper lip, Precocious puberty, Ventriculomegaly, Wide nasal bridge, Bifid uv... |
OMIM:300958 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Macrocephaly, Midface retrusion, Short nose, Frontal bossing, Thin ... |
OMIM:618430 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Ventriculomegaly, Wide nasal bridge, Micrognathia, Biparietal narrowing, Holoprosen... |
ORPHA:818 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
| 20Q11.2 Microduplication Syndrome |
|
Retrognathia, Brachycephaly, Wide nasal bridge, Abnormal nasal bridge morphology, Tented philtrum... |
ORPHA:363659 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Micrognathia, Bifid uvula, Midface retrusion, Cleft palate |
OMIM:606164 |
| Cleidocranial Dysplasia 2 |
|
Plagiocephaly, Wide anterior fontanel, Delayed eruption of primary teeth, Supernumerary tooth, Hy... |
OMIM:620099 |
| Foxg1 Syndrome |
|
Optic disc hypoplasia, Progressive microcephaly, Abnormal corpus callosum morphology, Pachygyria,... |
ORPHA:561854 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Thick lower lip vermilion, Midface retrusion, Macroglossia, Diastema, Shor... |
OMIM:301040 |
| Septooptic Dysplasia |
|
Absent septum pellucidum, Optic disc hypoplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
| Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Natal tooth, Anencephaly, Hydrocephalus, Macrocephaly, Median cleft lip and pal... |
OMIM:269860 |
| Lelis Syndrome |
|
Mandibular prognathia, Hypodontia, Midface retrusion, Carious teeth, Furrowed tongue |
ORPHA:140936 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Long philtrum, Micrognathia, Frontal bossing, Hypoplasia of the maxilla, Depressed ... |
OMIM:608149 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Iris coloboma, Tooth agenesis, Cleft palate, Agenesis of corpus callosum |
OMIM:147950 |
| Vici Syndrome |
|
Cerebral cortical atrophy, High palate, Abnormal macular morphology, Optic atrophy, Cerebellar hy... |
ORPHA:1493 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Underdeveloped nasal alae, Mandibular prognathia, Decreased response to growth hormone stimulatio... |
OMIM:616007 |
| Distal Monosomy 10P |
|
Non-midline cleft lip, Convex nasal ridge, Wide nasal bridge, Ectopic anus, Micrognathia, Anal at... |
ORPHA:1580 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Microcephaly, Abnormality of retinal pigmentation |
ORPHA:2163 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Midface retrusion, Short nose, Intestinal malrotation, Thin upp... |
ORPHA:401935 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Gonadotropin deficiency, Bifid uvula, Thyroid hypoplasia, Primary adrenal ins... |
ORPHA:672 |
| Ring Chromosome 22 Syndrome |
|
Midface retrusion, Dolichocephaly, Wide nasal base, Protruding tongue, Full cheeks, Microcephaly,... |
ORPHA:1446 |
| Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Brachycephaly, Midface retrusion, Depressed nasal bridge, Broad nasal tip, Malar flatt... |
OMIM:600430 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Cerebral atrophy, Agenesis of corpus callosum, Death in infancy |
OMIM:600329 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
High palate, Micrognathia, Midface retrusion, Short philtrum, Malar flattening, Prominent nasal b... |
OMIM:609944 |
| Microphthalmia With Limb Anomalies |
|
Retrognathia, Cleft upper lip, High palate, Deep philtrum, Short nose, Frontal bossing, Unilatera... |
OMIM:206920 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, High palate, Wide anterior fontanel, Long philtrum, Micrognathia, Short nose, Fron... |
ORPHA:163649 |
| Meckel Syndrome |
|
Pancreatic cysts, Aplasia/Hypoplasia of the tongue, Encephalocele, Depressed nasal ridge, Microgn... |
ORPHA:564 |
| Acrocraniofacial Dysostosis |
|
Wide nose, Oxycephaly, Natal tooth, Preauricular pit, Micrognathia, Craniosynostosis, Short philt... |
OMIM:201050 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Optic atrophy, Hypoplastic optic chiasm, Cerebellar hypoplasia, Simpli... |
OMIM:617669 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Retrognathia, High palate, Bilateral cryptorchidism, Bifid uvula, Macrocephaly, Prominent nasal b... |
OMIM:300472 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Ectopic anus, Microretrognathia, Frontal bossing, Delayed puberty, Microcephaly, ... |
ORPHA:2994 |
| Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus... |
OMIM:220210 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
| Mend Syndrome |
|
High palate, Wide anterior fontanel, Abnormal nasal bridge morphology, Micrognathia, Hydrocephalu... |
ORPHA:401973 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Widely spaced teeth, Micrognathia, Hydro... |
ORPHA:459061 |
| Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Bifid uvula, Midface retrusion, Depressed nasal bridge, Anteverted nares, Cleft pal... |
ORPHA:1427 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly, Midface retrusion, Thin upper lip vermilion, Depressed nasal bridge, Full cheeks, ... |
OMIM:616708 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, Scaphocephaly, High palate, Narrow nasal ridge, High, narrow palate, Craniosynostos... |
OMIM:616914 |
| Au-Kline Syndrome |
|
Bifid tongue, Ventriculomegaly, Plagiocephaly, Bifid uvula, Supernumerary nipple, Cleft palate, L... |
OMIM:616580 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Retrognathia, Mandibular prognathia, Prominent nose, Tooth malposition, Wide mouth, Microcephaly,... |
OMIM:619576 |
| 3M Syndrome |
|
Long philtrum, Delayed eruption of teeth, Midface retrusion, Dolichocephaly, Frontal bossing, Eve... |
ORPHA:2616 |
| Osteoglophonic Dysplasia |
|
Eruption failure, Mandibular prognathia, High palate, Long philtrum, Midface retrusion, Short nos... |
OMIM:166250 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Micrognathia, Abnormality of the ovary, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla |
ORPHA:2975 |
| Acrofrontofacionasal Dysostosis |
|
Brachycephaly, Non-midline cleft lip, High palate, Midface retrusion, Dimple on nasal tip, Everte... |
ORPHA:1784 |
| Amoebiasis Due To Free-Living Amoebae |
|
Encephalomalacia, Cerebral edema, Abnormality of taste sensation, Abnormal hypothalamus morpholog... |
ORPHA:68 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Short upper lip, Ventriculomegaly, Midface retrusion, Macroglossia, Secondary microcephaly |
OMIM:615809 |
| Treacher Collins Syndrome 2 |
|
Retrognathia, Choanal stenosis, Preauricular pit, Micrognathia, Microretrognathia, Hypoplasia of ... |
OMIM:613717 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:2508 |
| Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, Long philtrum, Wid... |
OMIM:616737 |
| Bohring-Opitz Syndrome |
|
Retrognathia, Cleft upper lip, Narrow palate, Wide nasal bridge, Micrognathia, Broad alveolar rid... |
OMIM:605039 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Optic atrophy |
OMIM:619057 |
| Monosomy 13Q14 |
|
Wide nasal bridge, Micrognathia, Holoprosencephaly, Microcephaly, Trigonocephaly, Prominent nasal... |
ORPHA:1587 |
| Short Stature, Brussels Type |
|
Calcification of cartilage, Macrocephaly, Microretrognathia |
ORPHA:2867 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Wide mouth, Anteverted nares, Lateral ventricle dilatation |
OMIM:300982 |
| Sclerosteosis 1 |
|
Dental malocclusion, Mandibular prognathia, Wide nasal bridge, Facial palsy secondary to cranial ... |
OMIM:269500 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Retrognathia, Microcephaly, Widely spaced teeth |
OMIM:619092 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
| Barber-Say Syndrome |
|
Underdeveloped nasal alae, Wide nose, Dental malocclusion, Mandibular prognathia, High palate, Wi... |
OMIM:209885 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Ventriculomegaly, Abnormal large intestine morphology, Micrognathia, Prominent occ... |
ORPHA:93932 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Desbuquois Dysplasia 1 |
|
Long philtrum, Midface retrusion, Microretrognathia, Short nose, Depressed nasal bridge, Concave ... |
OMIM:251450 |
| Schneckenbecken Dysplasia |
|
Macrocephaly, Midface retrusion, Short nose, Cleft palate, Malar flattening, Umbilical hernia |
OMIM:269250 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Retrognathia, Mandibular prognathia, High palate, Narrow nasal ridge, Plagiocephaly, Dental crowd... |
OMIM:620083 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, High palate, Ventriculomegaly, Short philtrum, Everted lower lip vermilion, Tented ... |
OMIM:616449 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Aqueductal stenosis, Abnormality of retinal pigmentation, Microcephaly |
ORPHA:1496 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Retrognathia, Ventriculomegaly, Dolichocephaly, Depressed nasal bridge, Microcephaly, Anteverted ... |
OMIM:617301 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
High palate, Prominent nose, Wide nasal bridge, Microretrognathia, Microcephaly, Bulbous nose |
OMIM:606220 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Microcephaly, ... |
OMIM:612079 |
| Microhydranencephaly |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Pachygyria, Ag... |
OMIM:605013 |
| Macrocephaly/Autism Syndrome |
|
High palate, Long philtrum, Biparietal narrowing, Midface retrusion, Hydrocele testis, Short nose... |
OMIM:605309 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Micrognathia, Microglossia, Narrow mouth |
OMIM:227270 |
| Cowden Syndrome 1 |
|
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd... |
OMIM:158350 |
| Wt Limb-Blood Syndrome |
|
Retrognathia, Micrognathia, Cryptorchidism |
OMIM:194350 |
| Myhre Syndrome |
|
Mandibular prognathia, Precocious puberty, Hypogonadism, Gingival cleft, Abnormal lip morphology,... |
ORPHA:2588 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Ventriculomegaly, Micrognathia, Midface retrusion, Pancreatic lymphangiectasis, Thin... |
ORPHA:1655 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Microcephaly... |
OMIM:617751 |
| Marcus-Gunn Syndrome |
|
Morning glory anomaly, Coloboma, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate |
ORPHA:91412 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:212138 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge, Primary microcephaly, Dolichocephaly, Prominent occiput, Microretro... |
ORPHA:89844 |
| Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Deep philtrum, Macroglossia, Prominent nasal septum, Bifid nasal tip, ... |
OMIM:616455 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Lateral ventricle dilatation, Hydrocephalus, Submucous cleft hard pal... |
OMIM:612863 |
| Charge Syndrome |
|
Cleft upper lip, Holoprosencephaly, Aqueductal stenosis, Delayed eruption of teeth, Anterior hypo... |
ORPHA:138 |
| Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Lateral ventricle dilatation, Righ... |
OMIM:616602 |
| Cog5-Cdg |
|
Retrognathia, High palate, Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, Micro... |
ORPHA:263487 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion, Absent uvula, Gingival overgrow... |
OMIM:268310 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus, Midface retrusion, Macrocephaly, Frontal bossing, Cloverleaf sku... |
ORPHA:2655 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, Precocious puberty, Long philtrum, Wide nasal bridge, Aplasia/Hypoplasia of the gal... |
ORPHA:96092 |
| Trisomy 12P |
|
Turricephaly, Wide nasal bridge, Micrognathia, Anal atresia, Supernumerary nipple, Short nose, Ev... |
ORPHA:1699 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Brachycephaly, Cleft upper lip, Ventriculomegaly, Wide mouth, Macrocephaly, Midface re... |
ORPHA:1394 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Plagiocephaly, Ventriculomegaly, Wide nasal bridge, Turricephaly, Aganglio... |
OMIM:613603 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Lissencephaly, X-Linked, 2 |
|
High palate, Long philtrum, Lissencephaly, Thin upper lip vermilion, Long upper lip, Pachygyria, ... |
OMIM:300215 |
| Neu-Laxova Syndrome |
|
Retrognathia, Abnormality of the philtrum, Depressed nasal ridge, Ventriculomegaly, Hypogonadism,... |
ORPHA:2671 |
| Kohlschutter-Tonz Syndrome-Like |
|
Brachycephaly, Enamel hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Delayed eruptio... |
OMIM:619229 |
| Curry-Jones Syndrome |
|
Intestinal malrotation, Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum |
ORPHA:1553 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Retrognathia, Wide mouth, Broad nasal tip, Bifid nasal tip, Microcephaly, Preauricular skin tag, ... |
OMIM:619758 |
| Zttk Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Bifid uvula, Midface retrusion, Intestinal atresia, Short no... |
OMIM:617140 |
| Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Pierre-Robin sequence, Velopharyngeal insufficiency, Ope... |
OMIM:192430 |
| Fountain Syndrome |
|
Wide mouth, Spina bifida, Thick lower lip vermilion, Macrocephaly, Midface retrusion, Craniofacia... |
ORPHA:3219 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Retrognathia, High palate, Hypogonadism, Microcephaly, Cryptorchidism |
ORPHA:85323 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:612462 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Lateral ventricle dilatation, Basal ganglia necrosis, Periventricular leuk... |
ORPHA:79243 |
| Cleidocranial Dysplasia 1 |
|
Enamel hypoplasia, Narrow palate, High palate, Wide nasal bridge, Delayed eruption of primary tee... |
OMIM:119600 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Abnormal ethmoid bone morphology, Abnormal mandible condylar process morphology, ... |
ORPHA:2976 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Hydrocephalus, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Periventricular leukomalacia, Macroglossia, Sma... |
OMIM:616900 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Midface retrusion, Depressed nasal bridge, Hypoplasia of the thymus, Wide anterior fontanel |
OMIM:617241 |
| Doors Syndrome |
|
Brachycephaly, Wide nasal bridge, Short lingual frenulum, Prominent occiput, Adrenal hyperplasia,... |
ORPHA:79500 |
| Arthrogryposis, Distal, Type 1A |
|
Retrognathia, Long nasal bridge, Narrow mouth, Cryptorchidism, Trismus |
OMIM:108120 |
| Pfeiffer Syndrome Type 1 |
|
Brachycephaly, High palate, Aqueductal stenosis, Midface retrusion, Short nose, Depressed nasal b... |
ORPHA:93258 |
| Loeys-Dietz Syndrome 5 |
|
Retrognathia, Brachycephaly, Overhanging nasal tip, High palate, Cleft soft palate, Eosinophilic ... |
OMIM:615582 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Ventriculomegaly, Micrognathia, Pyloric stenosis, Macrocephaly, Midface retrusion, Platybasia, Cl... |
ORPHA:261197 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim... |
OMIM:615095 |
| 19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Wide mouth, Supernumerary nipple, Broad columella, Solit... |
ORPHA:217346 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Wide mouth, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Agenesis of corpus callosum |
OMIM:619989 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Meier-Gorlin Syndrome 4 |
|
Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Microcephaly, C... |
OMIM:613804 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Micrognathia, Midface retrusion, Frontal bossing, Parietal bossing, Bifid nasal tip,... |
OMIM:619343 |
| Craniosynostosis 3 |
|
Dental malocclusion, Partial agenesis of the corpus callosum |
OMIM:615314 |
| Congenital Disorder Of Deglycosylation 2 |
|
High palate, Micrognathia, Thin corpus callosum, Polymicrogyria, Macroglossia, Partial agenesis o... |
OMIM:619775 |
| Distal Monosomy 10Q |
|
Brachycephaly, Prominent nose, High palate, Lateral ventricle dilatation, Wide nasal bridge, Cran... |
ORPHA:96148 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Wide nasal bridge, Tongue nodules, Natal tooth, Micrognath... |
ORPHA:2751 |
| Orofaciodigital Syndrome Xvi |
|
Retrognathia, Depressed nasal bridge, Hamartoma of tongue, Ventriculomegaly |
OMIM:617563 |
| Rubinstein-Taybi Syndrome 1 |
|
Convex nasal ridge, Premature thelarche, Wide nasal bridge, Micrognathia, Spina bifida occulta, S... |
OMIM:180849 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, High palate, Long philtrum, Simplified gyral pattern, Short philtrum, Micr... |
OMIM:620001 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Intestinal malrotation, Iris coloboma, Orofacial cleft, Pachygyria, Dysplastic ... |
ORPHA:2328 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Aplasia of the nose, Midface retrus... |
OMIM:603457 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Tented upper lip vermilion, Open ... |
OMIM:616362 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Retrognathia, Dolichocephaly |
OMIM:617352 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Micrognathia, Microdontia, Biparietal narrowing, Short nose, Thin upper li... |
ORPHA:1915 |
| Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Narrow palate, Abnormality of dental morphology, Hypoplasia of the maxilla, Depres... |
OMIM:277600 |
| Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Midface retrusion, Frontal bossing |
OMIM:617820 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Gingi... |
ORPHA:97360 |
| Insulin-Like Growth Factor I, Resistance To |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Diabetes mellitus, Inc... |
OMIM:270450 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Noncommunicating hydrocephalus, Long philtrum, Short philtrum, Downtur... |
OMIM:619320 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Ventriculomegaly, Hypodontia, Macrocephaly, Midface retrusion, Megarectum, Microcep... |
OMIM:301056 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Wide nasal bridge, Colpocephaly |
OMIM:614870 |
| Diamond-Blackfan Anemia 6 |
|
Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Cleft palate |
OMIM:612561 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Dilated third ventricle, Mandibular prognathia, Lateral ventricle dilatation, Promi... |
ORPHA:464738 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Micrognathia, Submucous cleft hard palate, Hypoplasia of the maxilla, Microcephaly... |
OMIM:613805 |
| Kniest Dysplasia |
|
Abnormal cartilage collagen, Midface retrusion, Depressed nasal bridge, Cleft palate, Malar flatt... |
OMIM:156550 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Bifid nose, Narrow mouth, Broad nasal tip, Microcephaly, Cleft palate |
OMIM:239800 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Short nose, Partial agenesis of the corpus callosum, Microcephaly, Anteverted nares... |
OMIM:234050 |
| Autosomal Dominant Robinow Syndrome |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion, Gingival overgrowth, Supernumer... |
ORPHA:3107 |
| Keutel Syndrome |
|
Underdeveloped nasal alae, Wide nose, Calcification of cartilage, Midface retrusion, Recurrent si... |
ORPHA:85202 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Abnormality of the dentition, Relative macrocephaly, Midface retrusion, Sh... |
OMIM:271510 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Long philtrum, Microretrognathia, Short nose |
ORPHA:1389 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Brachycephaly, Abnormality of thalamus morphology, Long philtrum, Wide nasal bridge, Deep philtru... |
ORPHA:404440 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Van Den Ende-Gupta Syndrome |
|
Underdeveloped nasal alae, Choanal stenosis, Convex nasal ridge, High palate, Scaphocephaly, Cran... |
OMIM:600920 |
| Autosomal Recessive Robinow Syndrome |
|
Bifid tongue, Wide nasal bridge, Ectopic anus, Micrognathia, Midface retrusion, Gingival overgrow... |
ORPHA:1507 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Anauxetic Dysplasia 2 |
|
Hypodontia, Relative macrocephaly, Midface retrusion, Macroglossia |
OMIM:617396 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Underdeveloped nasal alae, Conical tooth, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... |
OMIM:305100 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Ventriculomegaly, Cleft palate, Narrow palate, Proboscis, Hydrocephalus, Short nos... |
OMIM:605627 |
| Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
| Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Oligodontia, Midface retrusion, Dolichocephaly, Shor... |
OMIM:600002 |
| Short Stature-Micrognathia Syndrome |
|
Retrognathia, Scaphocephaly, High palate, Micrognathia, Microcephaly, Cryptorchidism, Cleft palate |
OMIM:617164 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Focal cortical dysplasia,... |
ORPHA:101030 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Periventricular leukom... |
ORPHA:255138 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Iris coloboma, Microcephaly, Cleft ... |
ORPHA:85284 |
| X-Linked Intellectual Disability, Armfield Type |
|
Brachycephaly, Mandibular prognathia, Wide mouth, Micrognathia, Macrocephaly, Midface retrusion, ... |
ORPHA:85276 |
| Mosaic Trisomy 1 |
|
Short upper lip, Wide nasal bridge, Lateral ventricle dilatation, Thick lower lip vermilion, Wide... |
ORPHA:1692 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Hyperintensity of cerebral white matter on MRI, T2 hypointense thalamus, Miscarriage, Cerebral at... |
ORPHA:1947 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Chorioretinitis, Coloboma, Cerebral calcification, Hypoplasia... |
ORPHA:199276 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Abnormality of the dentition |
ORPHA:2101 |
| Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
| Oculomaxillofacial Dysostosis |
|
Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Median cleft lip, Cleft palate, Abnor... |
ORPHA:1794 |
| Ramos-Arroyo Syndrome |
|
Choanal stenosis, Long philtrum, Primary microcephaly, Aganglionic megacolon, Frontal bossing, De... |
ORPHA:1051 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Pierre-Robin sequence, Everted lower lip vermilion, Anteriorly placed anus, Mi... |
OMIM:619980 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Ventriculomegaly, Taurod... |
OMIM:616202 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Brachycephaly, Ventriculomegaly, Abnormal testis morphology, Midface retrusion, Macroglossia, Sho... |
ORPHA:96147 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Oxycephaly, Parietal foramina, Convex nasal ridge, Narrow palate, Plagiocephaly, S... |
OMIM:101400 |
| Spondyloenchondrodysplasia |
|
Dental malocclusion, Hypothyroidism, Decreased response to growth hormone stimulation test, Ventr... |
ORPHA:1855 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Midface retrusion |
OMIM:614113 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Retrognathia, Micrognathia, Microcephaly |
OMIM:270750 |
| Stankiewicz-Isidor Syndrome |
|
Retrognathia, Prominent nose, Pineal cyst, Micrognathia, Cryptorchidism |
OMIM:617516 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Long philtrum, Delayed eruption of teeth, Cerebellar hypoplasia, Diffuse cerebral atrophy, Microc... |
OMIM:214150 |
| Cdags Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Midface re... |
OMIM:603116 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
High palate, Optic atrophy, Broad alveolar ridges, Microcephaly, Agenesis of corpus callosum |
OMIM:300004 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Brachycephaly, Cleft upper lip, High palate, Decreased response to growth hormone stim... |
OMIM:213980 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Long philtrum, Basal ganglia cysts, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:312170 |
| Nizon-Isidor Syndrome |
|
Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Downturned corners of mout... |
OMIM:618872 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Wide nasal bridge, Micrognathia, Bifid uvula, Holoprosencephaly, Cleft palate... |
OMIM:270400 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Esophageal atresia, Aganglionic megacolon, Hydrocephalus, Anal atresia, Mi... |
ORPHA:59315 |
| Acrofacial Dysostosis 1, Nager Type |
|
Retrognathia, Cleft upper lip, Aqueductal stenosis, Wide mouth, Temporomandibular joint ankylosis... |
OMIM:154400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Death in infa... |
OMIM:613150 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Micrognathia, Microdontia, Prominent occiput, Thin upper lip vermilion, Depressed... |
OMIM:603736 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Microcephaly, P... |
ORPHA:168486 |
| White-Kernohan Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Hypothyroidism, Wide mouth, Rectovaginal fistula, Midfac... |
OMIM:619426 |
| Three M Syndrome 3 |
|
Long philtrum, Prominent nasal tip, Dolichocephaly, Midface retrusion, Frontal bossing, Microceph... |
OMIM:614205 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Wide nose, High palate, Retrognathia, Prominent occiput |
OMIM:606056 |
| Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Microretrognathia, Short nose, Spina bifida occulta, Abnormal palate morphology... |
ORPHA:1786 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Primary microcephaly, Simplified gyral pattern, Widely spaced teeth, Parti... |
OMIM:604804 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| Desmosterolosis |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Relative macrocephaly, Macrocephaly, Gingival fibr... |
OMIM:602398 |
| Momo Syndrome |
|
Brachycephaly, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti... |
OMIM:157980 |
| 2P15P16.1 Microdeletion Syndrome |
|
Retrognathia, Brachycephaly, High palate, Ventriculomegaly, Wide nasal bridge, Hypogonadism, Decr... |
ORPHA:261349 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Agenesis of lateral incisor, Hypodontia, Anodon... |
OMIM:313500 |
| Microphthalmia, Syndromic 5 |
|
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Ectopic posterior pituitary, Cleft palate |
OMIM:610125 |
| Schaaf-Yang Syndrome |
|
Retrognathia, Abnormality of the philtrum, Mandibular prognathia, Hypogonadism, Frontal bossing, ... |
OMIM:615547 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
| Galloway-Mowat Syndrome 1 |
|
Prominent nose, Narrow nasal ridge, Ventriculomegaly, High palate, Wide mouth, Micrognathia, Midf... |
OMIM:251300 |
| Keppen-Lubinsky Syndrome |
|
Underdeveloped nasal alae, High palate, Narrow naris, Lateral ventricle dilatation, Micrognathia,... |
OMIM:614098 |
| Coach Syndrome 1 |
|
Encephalocele, Coloboma, Wide mouth, Aplasia/Hypoplasia of the cerebellar vermis, Esophageal vari... |
OMIM:216360 |
| Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Preauricular pit, Preauricular skin tag, Cleft palate, Short mandibular ra... |
OMIM:141400 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Broad nasal tip, Microcephaly, Lateral ventricle dilatation |
OMIM:619420 |
| Arachnoid Cyst |
|
Encephalocele, Cranial nerve compression, Hydrocephalus, Posterior fossa cyst at the fourth ventr... |
ORPHA:2356 |
| Verheij Syndrome |
|
Coloboma, Long philtrum, Thin upper lip vermilion, Microcephaly, Cerebral atrophy |
OMIM:615583 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Malar flattening, Midface retrusion |
OMIM:130060 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Depressed nasa... |
ORPHA:2804 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, High palate, Cryptorchidism |
ORPHA:456328 |
| Ayme-Gripp Syndrome |
|
Brachycephaly, Mandibular prognathia, Long philtrum, Wide nasal bridge, Craniofacial asymmetry, M... |
OMIM:601088 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Abnormal mandible morphology, Hyperthyroidism, Abnormality of the ... |
ORPHA:249 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Goldberg-Shprintzen Syndrome |
|
Wide nasal bridge, Aganglionic megacolon, Oligodontia, Short philtrum, Hypoplasia of the maxilla,... |
OMIM:609460 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Midface retrusion, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Malar ... |
OMIM:300232 |
| 2Q37 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Pyloric stenosis, Macrocephaly, Midface retrusion, Supernumerary nippl... |
ORPHA:1001 |
| Metaphyseal Acroscyphodysplasia |
|
Wide nasal bridge, Midface retrusion, Frontal bossing, Anteverted nares, Thickened calvaria, Mala... |
OMIM:250215 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Underdeveloped nasal alae, Retrognathia, Precocious puberty, Prominent nose, Ventriculomegaly, Wi... |
ORPHA:2637 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Leukoencephalopathy, Cerebral cortical atrophy, T2 hypointense thalamus, Basal ganglia calcificat... |
OMIM:618193 |
| Distal Monosomy 9P |
|
Wide nasal bridge, Midface retrusion, Short nose, Trigonocephaly, Cleft palate, High, narrow pala... |
ORPHA:1642 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Retrognathia, Neoplasm of the tongue, Hypothyroidism, Prominent nose, Micrognathia, Bifid uvula, ... |
ORPHA:3047 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Abnormal basal ganglia morphology, Decreased thalamic volume |
OMIM:618646 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, Ma... |
ORPHA:544488 |
| Trisomy 17P |
|
Wide nose, Prominent nose, High palate, Wide mouth, Micrognathia, Thick vermilion border, Hydroce... |
ORPHA:261290 |
| Chromosome Xq13 Duplication Syndrome |
|
Thin upper lip vermilion, Mandibular prognathia, Midface retrusion |
OMIM:301069 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Shashi-Pena Syndrome |
|
Retrognathia, Ventriculomegaly, Mild fetal ventriculomegaly, Macrocephaly, Thin upper lip vermili... |
OMIM:617190 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short philtrum, Mandibular prognathia, Midface retrusion, Microcephaly |
OMIM:617864 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hypoplasia of the corpus callosum, Open mouth, Macrodontia of permanent maxillary central incisor... |
OMIM:620114 |
| Silver-Russell Syndrome 3 |
|
Retrognathia, Unilateral cryptorchidism, Relative macrocephaly, Frontal bossing |
OMIM:616489 |
| Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Malar flattening, Midface retrusion |
OMIM:176670 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Trisomy 1Q |
|
Wide nose, Ventriculomegaly, Hydrocephalus, Macrocephaly, Anal atresia, Microretrognathia, Fronta... |
ORPHA:261344 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Narrow maxilla, Recurrent sinusitis, Bowel diverticulosis, Irregularly spaced teeth, Umbilical he... |
OMIM:130000 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Preauricular pit, Craniosynostosis, Microretrognathia, Intestinal malrotation, Thi... |
ORPHA:457193 |
| Mend Syndrome |
|
High palate, Micrognathia, Hydrocephalus, Midface retrusion, Microretrognathia, Smooth philtrum, ... |
OMIM:300960 |
| Pai Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Bifid uvula, Abnormal oral frenulum mor... |
ORPHA:1993 |
| Orofaciodigital Syndrome Type 4 |
|
Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Primary adrenal insufficiency, Medi... |
ORPHA:2753 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, Hypothyroidism, High palate, Wide nasal bridge, Short nose, Microcephaly |
OMIM:618005 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Depressed nasal bridge, Midface retrusion, Frontal bossing |
OMIM:165800 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Ventriculomegaly, Macrodontia of permanent maxillary central incisor, Long philtrum, Microdontia,... |
ORPHA:363611 |
| Cranioectodermal Dysplasia 2 |
|
Plagiocephaly, Wide nasal bridge, Micrognathia, Microdontia, Midface retrusion, Everted lower lip... |
OMIM:613610 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hyperintensity of cerebral white matter on MRI, Cerebellar hypoplasia, Hydrocephal... |
OMIM:618476 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Retrognathia, Wide mouth, Short philtrum, Microcephaly, Cryptorchidism |
ORPHA:1194 |
| Gabriele-De Vries Syndrome |
|
High palate, Pierre-Robin sequence, Lateral ventricle dilatation, Thick lower lip vermilion, Micr... |
OMIM:617557 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micrognathia, Narrow mouth, Peripheral axonal neuropathy, Dysplastic corpus callosum, Neonatal death |
OMIM:618810 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Gingival recession, Narrow nasal ridge, Ventriculomegaly... |
OMIM:618343 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Retrognathia, Short upper lip, Micrognathia, Short philtrum, Anal atresia, Secondary microcephaly... |
OMIM:616875 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Brachycephaly, Long philtrum, Micrognathia, Microdontia, Hydrocephalus, Midface retrusion, Micror... |
OMIM:245600 |
| Pfeiffer Syndrome Type 3 |
|
High palate, Aqueductal stenosis, Brachyturricephaly, Midface retrusion, Anal atresia, Short nose... |
ORPHA:93260 |
| Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Ventriculomegaly, Preauricular pit, Short nose, Anteverted nares, Broad... |
OMIM:618619 |
| Fumarase Deficiency |
|
Hypoplasia of the brainstem, High palate, Optic atrophy, Open operculum, Microcephaly, Cerebral a... |
OMIM:606812 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Thin vermilion border, Microcephaly, Agenesis of corpus callosum |
ORPHA:261519 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Trisomy 10P |
|
Retrognathia, Absent gallbladder, High palate, Primary microcephaly, Micrognathia, Abnormal lip m... |
ORPHA:171929 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Short philtrum, Agenesis of corpus callosum |
ORPHA:93267 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Retrognathia, Prominent nose, Long philtrum, Wide nasal bridge, Wide mouth, Micrognath... |
ORPHA:2995 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Cleft upper lip, Encephalocele, Calcification of falx cerebri,... |
OMIM:603671 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Small cerebral cortex, Short lingual frenulum, Microdontia, Periventri... |
OMIM:617360 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Preauricular pit, Hydranencephaly, Microcephaly, Cleft palate |
OMIM:601355 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Malabsorption, Aganglionic megacolon, Microcephaly, Pachygyria, Agenesis of cor... |
ORPHA:452 |
| Atelosteogenesis, Type I |
|
Encephalocele, Multinucleated giant chondrocytes in epiphyseal cartilage, Micrognathia, Midface r... |
OMIM:108720 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
| Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Bifid uvula, High palate, Narrow mouth |
ORPHA:169186 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, Mandibular prognathia, Lateral ventricle dilatation, Micrognathia, Umbilical hernia |
OMIM:618914 |
| D-Bifunctional Protein Deficiency |
|
Retrognathia, Scaphocephaly, High palate, Ventriculomegaly, Long philtrum, Micrognathia, Macrocep... |
OMIM:261515 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Wide nasal bridge, Micrognathia, Hydrocephalus, Downturned corners of mout... |
ORPHA:2075 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hyperplasia of the maxilla, Hypopituitar... |
ORPHA:231226 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Ventriculomegaly, Hydrocephalus, Inflammation of the large intes... |
OMIM:614576 |
| Antley-Bixler Syndrome |
|
Brachycephaly, Turricephaly, Long philtrum, Short nose, Frontal bossing, Narrow mouth, Anteverted... |
ORPHA:83 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Plagiocephaly, Long philtrum, Dolichocephaly, Hypoplasia of the maxilla, C... |
ORPHA:1101 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Aplasia/Hypoplasia of the corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Everted l... |
OMIM:616819 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Cerebellar vermis hypoplasia, Optic atrophy, Polymicrogyria |
OMIM:612379 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Deep philtrum, Dolichocephaly, Microretrognathia, Short nose, F... |
OMIM:618571 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Everted upper lip vermilion, Widely spaced teeth, Pineal cyst, Micrognathia, Pr... |
ORPHA:513456 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer... |
ORPHA:86822 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Median cleft lip, Holoprosencephaly, Iris coloboma, Microcephaly, Cyclopia, Orofacial cleft |
ORPHA:3186 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:615286 |
| Fontaine Progeroid Syndrome |
|
Brachycephaly, Convex nasal ridge, Micrognathia, Microdontia, Midface retrusion, Everted lower li... |
OMIM:612289 |
| Monosomy 22 |
|
Wide nose, Retrognathia, High palate, Long philtrum, Prominent nasolabial fold, Prominent occiput... |
ORPHA:96123 |
| Squalene Synthase Deficiency |
|
Retrognathia, Micrognathia, Depressed nasal bridge, Bilateral cryptorchidism |
OMIM:618156 |
| 4Q21 Microdeletion Syndrome |
|
Cerebellar hypoplasia, Short philtrum, Downturned corners of mouth, Thin vermilion border, Agenes... |
ORPHA:238750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Short nose, Anteriorly placed anus, ... |
OMIM:217980 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Ventriculomegaly, Macrocephaly, Midface retrusion, Microcephaly, Cryptorchidism |
ORPHA:485350 |
| Trisomy 8Q |
|
Non-midline cleft lip, High palate, Bifid tongue, Wide nasal bridge, Myelomeningocele, Micrognath... |
ORPHA:1752 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Encephalocele, Broad philtrum, Agenesis of cerebellar vermis, Agenesis of corpus c... |
ORPHA:228390 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
| Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Coloboma, Wide mouth, Cerebellar hypoplasia, Diastema, Thin upper lip vermilion, Downturned corne... |
ORPHA:329224 |
| Campomelic Dysplasia |
|
Irregular dentition, Spinal dysraphism, High palate, Depressed nasal ridge, Wide anterior fontane... |
OMIM:114290 |
| Meckel Syndrome 12 |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Bifid uvula, Microcephaly, Agenesis ... |
OMIM:616258 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Midface retrus... |
OMIM:300990 |
| Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Esophageal atresia, Septo-optic dysplasia, Optic nerve hypo... |
ORPHA:3157 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Long philtrum, Wide nasal bridge, Wide mouth, Micrognathia, Microdontia, Bifid uvula, ... |
OMIM:613458 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Decreased circulating osteocalcin level, Short nose, Central diabetes i... |
OMIM:125700 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Agyria, Dysgyria, Abnormal corpus callosum morphology, Microc... |
ORPHA:467166 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Frontal bossing, Hypoplasia of the maxill... |
OMIM:259600 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Hypogonadism, Absen... |
ORPHA:280651 |
| Orofaciodigital Syndrome I |
|
Bifid tongue, Wide nasal bridge, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft... |
OMIM:311200 |
| Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Increased head circumference, Pineal cyst, Submucous cleft soft palate, Deviated nasal septum, Pr... |
OMIM:300967 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus |
ORPHA:759 |
| Say Syndrome |
|
Micrognathia, Microcephaly, Cleft palate |
OMIM:181180 |
| 17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Otosclerosis, Wide nasal bridge, Pineal cy... |
ORPHA:529962 |
| Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Meningocele, Cleft upper lip, Mandibular prognathia, Wide nasal bridge... |
ORPHA:894 |
| Emanuel Syndrome |
|
High palate, Long philtrum, Ectopic anus, Delayed eruption of teeth, Bifid uvula, Dental crowding... |
ORPHA:96170 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Coloboma, Cerebellar hypoplasia, Downturned corners of mouth, Narrow mouth... |
OMIM:611961 |
| Galloway-Mowat Syndrome 3 |
|
High palate, Ventriculomegaly, Micrognathia, Midface retrusion, Frontal bossing, Narrow mouth, Mi... |
OMIM:617729 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Dental malocclusion, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, Long philtrum, Wid... |
ORPHA:487796 |
| Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Micrognathia, Advanced eruption of teeth, Preauricular pit, Short... |
ORPHA:949 |
| Opitz-Kaveggia Syndrome |
|
Plagiocephaly, Micrognathia, Cleft palate, Postnatal macrocephaly, Choanal atresia, Prominent nos... |
OMIM:305450 |
| Stickler Syndrome |
|
Cleft upper lip, Depressed nasal ridge, Long philtrum, Micrognathia, Advanced eruption of teeth, ... |
ORPHA:828 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Retrognathia, Long philtrum, Microcephaly, Cryptorchidism, Intestinal pseudo-obstruction |
ORPHA:73246 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Ventriculomegaly, Pierre-Robin sequence, Long phil... |
ORPHA:1358 |
| Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Communicating hydrocephalus, Macrocephaly, Frontal bossing, Bulbous nose, Colpo... |
OMIM:615219 |
| Webb-Dattani Syndrome |
|
Retrognathia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Secondar... |
OMIM:615926 |
| Ogden Syndrome |
|
Underdeveloped nasal alae, Enlarged naris, Ventriculomegaly, Everted upper lip vermilion, Microre... |
ORPHA:276432 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cle... |
OMIM:619103 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Underdeveloped nasal alae, Thick upper lip vermilion, Thick lower lip vermilion, Midface retrusio... |
OMIM:608624 |
| Bohring-Opitz Syndrome |
|
Retrognathia, Ventriculomegaly, Wide nasal bridge, Micrognathia, Agenesis of corpus callosum, Dep... |
ORPHA:97297 |
| Orofaciodigital Syndrome Type 10 |
|
Retrognathia, Cleft soft palate, Long philtrum, Micrognathia, Depressed nasal bridge, Accessory o... |
ORPHA:2756 |
| Culler-Jones Syndrome |
|
Diabetes insipidus, Cleft upper lip, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism... |
OMIM:615849 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Micrognathi... |
ORPHA:397715 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Depressed nasal bridge, Midface retrusion |
OMIM:618378 |
| Branchiootic Syndrome 1 |
|
Retrognathia, Branchial fistula, Preauricular pit |
OMIM:602588 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Relative macrocephaly, Midface retrusion, Umbilical hernia |
ORPHA:231144 |
| Coffin-Siris Syndrome 12 |
|
Hypothyroidism, Noncommunicating hydrocephalus, Micrognathia, Prominent nasal tip, Midface retrus... |
OMIM:619325 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Ventriculomegaly, Everted upper lip vermilion, Micrognathia, Short nose, Everted lo... |
OMIM:608013 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Depress... |
OMIM:612731 |
| Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Malar flattening, Midface retrusion, Craniosynostosis |
OMIM:123150 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Retrognathia, High palate, Micrognathia, Narrow mouth, Long nose, Cleft palate |
OMIM:301091 |
| Distal Monosomy 3P |
|
Brachycephaly, High palate, Ventriculomegaly, Long philtrum, Preauricular pit, Micrognathia, Down... |
ORPHA:1620 |
| Peters-Plus Syndrome |
|
Ventriculomegaly, Short lingual frenulum, Micrognathia, Conical incisor, Cleft palate, Agenesis o... |
OMIM:261540 |
| Momo Syndrome |
|
Brachycephaly, Dental malocclusion, Thick upper lip vermilion, High palate, Long philtrum, Delaye... |
ORPHA:2563 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Mandibular aplasia, Craniosynostosis, Micrognathia, Bifid uvula, Submucous cleft ha... |
ORPHA:2554 |
| Koolen-De Vries Syndrome |
|
Underdeveloped nasal alae, Hypothyroidism, Narrow palate, Ventriculomegaly, Wide nasal bridge, Hi... |
ORPHA:96169 |
| Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Midface retrus... |
ORPHA:798 |
| Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Primary microcephaly, Thick lower lip vermilion, Microcephaly, Agenesis of corpus callosum, Cereb... |
ORPHA:466688 |
| Treacher Collins Syndrome 3 |
|
Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, Cleft palate |
OMIM:248390 |
| Johnson Neuroectodermal Syndrome |
|
Hypogonadism, Everted lower lip vermilion, Anosmia, Microcephaly, Carious teeth, Cleft palate, Bu... |
ORPHA:2316 |
| White-Sutton Syndrome |
|
Brachycephaly, High palate, Midface retrusion, Short philtrum, Thin upper lip vermilion, Depresse... |
ORPHA:468678 |
| Atelosteogenesis Type I |
|
Micrognathia, Midface retrusion, Abnormal pancreatic duct morphology, Cleft palate, Malrotation o... |
ORPHA:1190 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, High palate, Elevated circulating thyroid-stimulating hormone conc... |
OMIM:613457 |
| Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, High palate, Coloboma, Upper lip pit, Deep philtrum, Microdontia, Everted ... |
ORPHA:1297 |
| Myhre Syndrome |
|
Thickened calvaria, Mandibular prognathia, Macrocephaly, Midface retrusion, Short philtrum, Hypop... |
OMIM:139210 |
| Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Short nose, Median cleft lip, Narrow mouth, Microcephaly... |
ORPHA:1234 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
High palate, Long philtrum, Lateral ventricle dilatation, Thin upper lip vermilion, Secondary mic... |
OMIM:617854 |
| Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Retrognathia, Bilateral cryptorchidism, Relative macrocephaly, Frontal bossing, Submucous cleft l... |
ORPHA:261911 |
| Atelosteogenesis Type Ii |
|
Plagiocephaly, Long philtrum, Micrognathia, Midface retrusion, Thin upper lip vermilion, Wide nas... |
ORPHA:56304 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
High palate, Pierre-Robin sequence, Lateral ventricle dilatation, Increased head circumference, W... |
OMIM:300868 |
| Curry-Jones Syndrome |
|
Hemimegalencephaly, Lip pit, Occipital meningocele, Agenesis of corpus callosum, Intestinal malro... |
OMIM:601707 |
| Helsmoortel-Van Der Aa Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Wide nasal bridge, Pineal cyst, Microdontia, Midf... |
OMIM:615873 |
| Arboleda-Tham Syndrome |
|
Plagiocephaly, Primary microcephaly, Midface retrusion, Cleft palate, Frontal bossing, Narrow mou... |
OMIM:616268 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Retrognathia, Supernumerary nipple |
ORPHA:1809 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Anal atresia, Anteriorly placed anus, Iris coloboma, Colonic atresia, Microcephaly... |
OMIM:309801 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Retrognathia, Microcephaly |
OMIM:611719 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Brachycephaly, High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Narrow mouth, Mi... |
OMIM:156610 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Wide nasal bridge, Short nose, Subependymal cysts, Depressed nasal ... |
OMIM:610015 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Long philtrum, Lateral ventricle dilatation |
OMIM:619972 |
| Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, High palate, Long philtrum, Cerebellar hypoplasia, Pyloric stenosis,... |
OMIM:248700 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, High palate, Plagiocephaly, Long philtrum, Micrognathia, Microdontia, ... |
ORPHA:536467 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hypodontia, Midface retrusion, Short nose, Narrow nasal bridge, Microcephaly |
ORPHA:544503 |
| Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Wide anterior fontanel, Wide nasal bridge, Anal atresia, Frontal bo... |
OMIM:300000 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
| Alg12-Cdg |
|
Wide nose, Ventriculomegaly, Micrognathia, Recurrent pharyngitis, Midface retrusion, Short philtr... |
ORPHA:79324 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula, Iris coloboma, Chorioretinal coloboma, Agenesis of corp... |
ORPHA:268249 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hyperplasia of the maxilla, Hypopituitar... |
ORPHA:231214 |
| Alg2-Cdg |
|
Microcephaly, Wide nasal bridge, Lateral ventricle dilatation |
ORPHA:79326 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Aganglionic megacolon, Midface retrusion, Microcephaly, Malar flattening, ... |
OMIM:300352 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Relative macrocephaly, Midface retrusion, Prominent occiput, Dolichocephaly, Depre... |
OMIM:617895 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| 7Q11.23 Microduplication Syndrome |
|
Retrognathia, Dental malocclusion, Brachycephaly, High palate, Ventriculomegaly, Short lingual fr... |
ORPHA:96121 |
| Weaver Syndrome |
|
Retrognathia, Mandibular prognathia, Ventriculomegaly, Lateral ventricle dilatation, Long philtru... |
OMIM:277590 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Retrognathia, Hypoplasia of the thymus, Long philtrum, Wide nasal bridge, Micrognathia, Pyloric s... |
OMIM:613177 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Periodontitis, Hypoplasia of the maxilla, Microcephaly, Malar flattening |
OMIM:231070 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Cerebellar ... |
OMIM:615287 |
| Acces Syndrome |
|
Tracheoesophageal fistula, Retrognathia, Supernumerary nipple |
OMIM:619959 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Optic atrophy |
OMIM:616239 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Hyposmia, Small pituitary gland, Delayed puberty, Anosmia, Cleft lip, Cryptorchidism... |
OMIM:612702 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Wide anterior fontanel, Ectopic anus, Wide mouth... |
ORPHA:85199 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypothyroidism, Convex nasal ridge, Relative macrocephaly, Midface retrusion, Type I diabetes mel... |
OMIM:613385 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Unilateral cryptorchidism, Bilateral cryptorchidism, High palate |
OMIM:300219 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Dentinogenesis imperfecta, Precocious puberty, Periodontitis, Type I diabetes melli... |
OMIM:619269 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Anal atresia, Microcephaly |
OMIM:619318 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Leukoencephalopathy, Abnormal motor neuron morphology, Abnormality of thalamus morphology |
OMIM:613724 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Wide mouth, Retinal dystrophy, Bifid uvula, Cerebellar vermis hypoplasia, Micr... |
OMIM:615802 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Cleft palate |
ORPHA:2476 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Midface retrusion, Microcephaly |
OMIM:615119 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, High palate, Encephalocele, Delayed eruption of teeth, Advanced eruption of ... |
OMIM:619148 |
| Al-Gazali-Bakalinova Syndrome |
|
Triangular mouth, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:607131 |
| Achondroplasia |
|
Choanal stenosis, Hydrocephalus, Midface retrusion, Macrocephaly, Frontal bossing, Depressed nasa... |
OMIM:100800 |
| Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Downturned corners of mouth, Coloboma, Smooth philtrum |
OMIM:618652 |
| Weill-Marchesani Syndrome 2 |
|
Brachycephaly, High palate, Narrow palate, Abnormality of dental morphology, Hypoplasia of the ma... |
OMIM:608328 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Convex nasal ridge, Micrognathia, Midface retrusion, Microretrognathia, Decr... |
OMIM:614008 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Abnormality of thalamus morphology, Deep philtrum, Micrognathia, Pyloric s... |
ORPHA:435638 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Wide mouth, Macroglossia, Everted lower lip vermilion, Open mouth |
OMIM:616789 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... |
OMIM:604292 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental malocclusion, Abnormality of upper lip vermillion, Pierre-Robin sequence, High palate, Lon... |
ORPHA:251028 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Wide nasal bridge, Lateral ventricle dilat... |
OMIM:300896 |
| Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla, Cleft palate, Short philtrum, Umbilical hernia |
ORPHA:96129 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Optic nerve dysplasia, Lateral ventricle dilatation, Short philtrum, Partial agenesis of the corp... |
OMIM:617296 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Thick upper lip vermilion, Long philtrum, Wide nasal bridge, Wide mouth, Thick lower lip vermilio... |
OMIM:611717 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Coronal craniosynostosis, Micrognathia, Midface retrusion, Decreased calvarial ossif... |
ORPHA:313855 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Aplasia of the nose, Proboscis, Midface retrusion, Median cleft lip and palat... |
OMIM:236100 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Microcephaly, Cryptorch... |
OMIM:613803 |
| Sponastrime Dysplasia |
|
Wide nose, Obtuse angle of mandible, Hypothyroidism, Aplasia of the nasal bone, Mandibular progna... |
ORPHA:93357 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Precocious puberty, High palate, Prominent nose, Neonatal insulin-dependent diabete... |
ORPHA:96191 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Dental malocclusion, Retrognathia, Convex nasal ridge, Prominent nose, High palate, Bi... |
OMIM:601552 |
| Bor Syndrome |
|
Retrognathia, Cleft palate, Preauricular skin tag, Branchial cyst |
ORPHA:107 |
| Trisomy 8P |
|
Retrognathia, Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Annular pancreas... |
ORPHA:264450 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Retrognathia, Primary microcephaly, Micrognathia, Short nose, Progressive microcephaly... |
OMIM:608779 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the retina, Coloboma, Optic atrophy, Ret... |
OMIM:253280 |
| Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... |
OMIM:615745 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Retrognathia, Micrognathia, Short philtrum, Anal atresia, Progressive microcephaly, Gingival over... |
ORPHA:480898 |
| Neu-Laxova Syndrome 2 |
|
High palate, Depressed nasal ridge, Ventriculomegaly, Spina bifida, Micrognathia, Microcephaly, C... |
OMIM:616038 |
| Radio-Renal Syndrome |
|
Retrognathia, Convex nasal ridge, Micrognathia, Depressed nasal bridge, Downturned corners of mou... |
ORPHA:3015 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Midface retrusion, Short nose, Frontal bossing, Wide nasal base, Full cheeks, Smoot... |
OMIM:601559 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circ... |
ORPHA:95699 |
| Myasthenic Syndrome, Congenital, 19 |
|
Retrognathia, Micrognathia, High palate |
OMIM:616720 |
| 46,Xy Sex Reversal 4 |
|
Prominent nose, Depressed nasal ridge, High palate, Long philtrum, Micrognathia, Anal atresia, Hy... |
OMIM:154230 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowding, Bicoronal syn... |
OMIM:619184 |
| Distal Tetrasomy 15Q |
|
Retrognathia, High palate, Micrognathia, Hydrocephalus, Hydrocele testis, Craniosynostosis, Dandy... |
ORPHA:314588 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypodontia, Microdontia, Midface retrusion, Concave nasal ridge, Malar flattening |
OMIM:602482 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Midface retrusion, Micro... |
OMIM:617784 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Plagiocephaly, Micrognathia, Smooth philtrum, Agenesis of incisor, Dolichocephaly, Frontal bossin... |
OMIM:619841 |
| Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Coloboma, Esophageal atresia, Optic nerve aplasia, Optic nerve hyp... |
OMIM:206900 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Neurogenic bladder, Hydrocephalus, Partial ag... |
ORPHA:1136 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Midface retrusion, Thyroid hypoplasia, Decreased circulating T4 concentration, Decreased circulat... |
ORPHA:226307 |
| Carpenter Syndrome 2 |
|
Brachycephaly, Wide nasal bridge, Midface retrusion, Supernumerary nipple, Oxycephaly, Narrow pal... |
OMIM:614976 |
| Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Micrognathia, Parathyroid hypoplasia, Holoprosencephaly,... |
OMIM:214800 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Wide nasal bridge, Micrognathia, Macrocephaly, Bifid uvula, Midface retrusion, Narrow mouth, Clef... |
OMIM:130070 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele, Wide mouth, Median cleft lip, Hypoplasia of the olfactory bulb, Agene... |
ORPHA:1827 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test, Wide nasal bridge, Microdontia, Hypodontia... |
OMIM:180500 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Retrognathia, Brachycephaly, High palate, Long philtrum, Narrow naris, Wide nasal bridge, Dental ... |
OMIM:617157 |
| Lateral Meningocele Syndrome |
|
Meningocele, Thickened calvaria, High palate, Short nasal bridge, Long philtrum, Micrognathia, Hy... |
OMIM:130720 |
| Coffin-Lowry Syndrome |
|
Wide nose, Dental malocclusion, Mandibular prognathia, Narrow palate, Ventriculomegaly, High pala... |
OMIM:303600 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Short nose, Hypoplasia of the maxilla, Short columella, Broad nasal tip, N... |
ORPHA:79345 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Abnormal cerebral white matter morphology, Focal T2 hyperintense basal gang... |
ORPHA:79264 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Prominent nasal tip, Macroce... |
ORPHA:1675 |
| Pseudo-Torch Syndrome 1 |
|
High palate, Ventriculomegaly, Long philtrum, Microretrognathia, Microcephaly, Anteverted nares, ... |
OMIM:251290 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Hypergonadotropic hypogonadism |
OMIM:212112 |
| Stickler Syndrome, Type Vi |
|
Depressed nasal bridge, Midface retrusion |
OMIM:620022 |
| Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Wide mouth, Esophageal atresia, Bifid uvula, Short nose, Tracheoesophageal fistula,... |
OMIM:301030 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma |
OMIM:617306 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Hypoglycemia, Arrhyt... |
ORPHA:156 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Retrognathia, High palate, Wide mouth, Frontal bossing, Full cheeks, Microcephaly, Bulbous nose |
OMIM:619934 |
| 9P13 Microdeletion Syndrome |
|
Brachycephaly, Precocious puberty, High palate, Wide nasal bridge, Microretrognathia, Abnormality... |
ORPHA:324313 |
| Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Micrognathia, Short nose, Frontal bossing, Microcephaly, Triangular mouth, Tent... |
OMIM:618460 |
| Maternal Phenylketonuria |
|
High palate, Long philtrum, Wide nasal bridge, Esophageal atresia, Micrognathia, Microcephaly, An... |
ORPHA:2209 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Wide mouth, Deep philtru... |
OMIM:617260 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Macro... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Macro... |
ORPHA:352665 |
| Ablepharon Macrostomia Syndrome |
|
Underdeveloped nasal alae, Wide mouth, Microdontia, Hypoplasia of the maxilla, Depressed nasal br... |
ORPHA:920 |
| Neurocardiofaciodigital Syndrome |
|
Retrognathia, Dilated fourth ventricle, Overhanging nasal tip, High palate, Lateral ventricle dil... |
OMIM:619869 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Long philtrum, Coloboma, Retinal coloboma, Spina bifida, Micrognathia, Per... |
ORPHA:508498 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Micrognathia, Pyloric stenosis, Relative macrocephaly, Midface retrusi... |
OMIM:613848 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Wide anterior fontanel, Hydrocephalus, Midface retrusion, Macrocephaly, Frontal bossing, Depresse... |
OMIM:616482 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Depressed nasal ridge, Volvulus, Aganglionic megacolon, Thick lower lip vermilion, Midface retrus... |
ORPHA:847 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:453521 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Long philtrum, Deep philtrum, Coloboma, Micrognathia, Everted lower li... |
ORPHA:251014 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Brachycephaly, Precocious puberty, Cleft soft palate, Wide nasal bridge, Microdontia, Broad colum... |
OMIM:619950 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Decreased circulating free T3, Increased circulating T4 concentration, Elevated circulating thyro... |
ORPHA:171706 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Delayed eruption of teeth, Lateral ventricle dilatation, Primary microcephaly, Bif... |
ORPHA:261552 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Retrognathia, Macroglossia, Depressed nasal bridge, Anteverted nares, Large placenta, Open mouth,... |
ORPHA:254528 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Paralytic ileus, Facial di... |
ORPHA:254930 |
| Ritscher-Schinzel Syndrome 4 |
|
High palate, Narrow palate, Wide mouth, Cerebellar hypoplasia, Short philtrum, Dandy-Walker malfo... |
OMIM:619435 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Wide nasal bridge, Micrognathia, Midface retrusion, Short upper lip, Dolichocephaly, Macroglossia... |
OMIM:309580 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands, Frontal bossing |
OMIM:300291 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Midface retrusion, Short nose |
OMIM:618618 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Lateral ventricle dilatation, Cryptorchidism |
OMIM:616816 |
| Loeys-Dietz Syndrome 4 |
|
Retrognathia, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Dolichocephal... |
OMIM:614816 |
| Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
| Steel Syndrome |
|
Anteverted nares, Midface retrusion, Wide nasal bridge |
OMIM:615155 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Midface retrusion |
OMIM:609508 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Scaphocephaly, Thick lower lip vermilion, Midface retrusion, Thin upper lip vermilion, Downturned... |
ORPHA:261323 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Enlarged naris, High palate, Depressed nasal ridge, Wide anterior fontanel, Long philtrum, Progre... |
OMIM:271665 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Retrognathia, Prominent crus of helix, Wide nasal bridge, Wide mouth, Deep philtrum, Microdontia,... |
OMIM:619194 |
| Mogs-Cdg |
|
Wide nose, Hypothyroidism, Retrognathia, High palate, Hydrocele testis, Prominent occiput, Inappr... |
ORPHA:79330 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Everted lower lip vermilion, Microcephaly, Smooth philtrum, Tented upper lip vermil... |
ORPHA:261144 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Prominent nose, Midface retrusion, Secondary microcephaly, Full cheeks, Narrow mouth, Flat occipu... |
OMIM:618076 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Primary microcephaly, Depressed nasal bridge, Microcepha... |
ORPHA:457351 |
| Trichohepatoneurodevelopmental Syndrome |
|
Brachycephaly, Hypothyroidism, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Micro... |
OMIM:618268 |
| Orofaciodigital Syndrome Vi |
|
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Porencephalic cyst, Arrhinencepha... |
OMIM:277170 |
| Cach Syndrome |
|
Optic atrophy, Lateral ventricle dilatation, T2 hypointense thalamus, Optic neuritis, Dysgyria, M... |
ORPHA:135 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Hypoplastic sweat glands, Long philtrum, Wide nasal bridge, Micrognathia, Ma... |
ORPHA:73223 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Microphthalmia, Syndromic 6 |
|
Retrognathia, Hypothyroidism, Female hypogonadism, Brachycephaly, High palate, Ventriculomegaly, ... |
OMIM:607932 |
| Joubert Syndrome 3 |
|
Wide nasal bridge, Lateral ventricle dilatation, Anteverted nares, Open mouth, Enlarged fossa int... |
OMIM:608629 |
| Fryns Syndrome |
|
Non-midline cleft lip, Cerebral cortical atrophy, High palate, Long philtrum, Ectopic anus, Wide ... |
ORPHA:2059 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Long philtrum, Lateral ventricle dilatation, Wide mouth, Thick lower lip vermilion, Everted lower... |
OMIM:620075 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Colp... |
OMIM:609053 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Natal tooth, Short philtrum, Concave nasal ridge, Cleft palate |
OMIM:617337 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Retrognathia, Enamel hypoplasia, Precocious puberty, Prominent nose, Type II diabetes mellitus, M... |
OMIM:210720 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Hydrocephalus, High palate, Ocular albinism |
ORPHA:2720 |
| Pfeiffer Syndrome Type 2 |
|
High palate, Aqueductal stenosis, Hydrocephalus, Anal atresia, Short nose, Intestinal malrotation... |
ORPHA:93259 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Microdontia, Hypodontia, Abnormal oral frenulum morphology, Abnormal o... |
ORPHA:289 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Wide anterior fontanel, Micrognathia, Stippled chondral calcification, Cryptorchidis... |
OMIM:614866 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Convex nasal ridge, Aqueductal stenosis, Micrognathia, Narrow mouth, Microcephaly, Cle... |
OMIM:251230 |
| Familial Visceral Myopathy |
|
Micrognathia, Aganglionic megacolon, Hyperparathyroidism, Microcephaly, Anteverted nares, Cleft p... |
ORPHA:2604 |
| Chromosome 5P13 Duplication Syndrome |
|
Short philtrum, Downturned corners of mouth, High palate, Agenesis of corpus callosum |
OMIM:613174 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
High palate, Craniosynostosis, Midface retrusion, Thin upper lip vermilion, Narrow mouth, Broad n... |
OMIM:618050 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism, Short nose, Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum |
OMIM:302950 |
| Primrose Syndrome |
|
Brachycephaly, Hypothyroidism, Ventriculomegaly, Wide nasal bridge, Midface retrusion, Torus pala... |
OMIM:259050 |
| Odontoonychodermal Dysplasia |
|
Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smooth tongue, Conical inci... |
OMIM:257980 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Underdeveloped nasal alae, Cleft mandible, High palate, Pierre-Robin sequence, Long philtrum, Exa... |
OMIM:608670 |
| Alg11-Cdg |
|
Retrognathia, Long philtrum, Microcephaly |
ORPHA:280071 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Anterior plagiocephaly, Plagiocephaly, Ventriculomegaly, Wide nasal b... |
OMIM:614749 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Wide nose, Midface retrusion, Short philtrum, Thin upper lip vermilion, Progressive microcephaly,... |
OMIM:607143 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Secondary microcephaly, Decreased nerve conduction velocity, Abnormal basal gangli... |
ORPHA:485421 |
| Crane-Heise Syndrome |
|
Ventriculomegaly, Micrognathia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Cleft p... |
ORPHA:1512 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Midface retrusion, Recurrent upper respiratory tract infections, Trigo... |
ORPHA:508542 |
| Greenberg Dysplasia |
|
Retrognathia, Depressed nasal ridge, Micrognathia, Macrocephaly, Midface retrusion, Hypoplasia of... |
OMIM:215140 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Long philtrum, Ankyloglossia, Hydrocephalus, Iris coloboma, Microcephaly, Agenesis o... |
ORPHA:250989 |
| Deeah Syndrome |
|
Retrognathia, Anterior pituitary hypoplasia, High palate, Narrow palate, Decreased response to gr... |
OMIM:619004 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation |
OMIM:147800 |
| Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Hypogonadism, Malabsorption, Short nose, Intestinal obstruction, Microcephaly, Tria... |
OMIM:601675 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, Anterior pituitary hypoplasia, Ventri... |
OMIM:151050 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hypoplasia of the nasal bone, Frontal bossing |
OMIM:118650 |
| Oculodentodigital Dysplasia |
|
Underdeveloped nasal alae, Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agene... |
OMIM:164200 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Coloboma, Abnormal autonomic nervous system physiology, Oligodontia, Bifid uvula, Ma... |
ORPHA:453499 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hemimegalencephaly, Abnormality of dental morphology, Abnormality of dental color, Coloboma |
OMIM:163200 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Tooth malposition, Hyposmia, Hypogonadism, Bifid uvula, Submucous cle... |
ORPHA:2250 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Small pituitary gland, Anosmia, Cryptorchidism, Cleft palate |
OMIM:614880 |
| Hennekam Syndrome |
|
Retrognathia, Wide nasal bridge, Delayed eruption of teeth, Malabsorption, Gingival overgrowth, P... |
ORPHA:2136 |
| Witteveen-Kolk Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Unilateral cryptorchidism, Smooth philtrum, Overhanging nasa... |
OMIM:613406 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Retrognathia, Micrognathia, Depressed nasal bridge, Esophagitis, Hiatus hernia |
ORPHA:1901 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Basal ganglia calcification |
OMIM:618824 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Micrognathia, Microglossia, Narrow mouth, Aglossia |
OMIM:103300 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Porencephalic cyst, Hydrocephalus, Dandy-Walker malformation, Cortical dys... |
OMIM:613001 |
| Immunodeficiency 49 |
|
Reduced cerebral white matter volume, Natal tooth, Short philtrum, Eosinophilia, Agenesis of corp... |
OMIM:617237 |
| Kabuki Syndrome |
|
Lip pit, High palate, Cerebral cortical atrophy, Coloboma, Widely spaced teeth, Microdontia, Abno... |
ORPHA:2322 |
| Larsen Syndrome |
|
Cleft upper lip, Hypodontia, Midface retrusion, Frontal bossing, Spina bifida occulta, Depressed ... |
OMIM:150250 |
| Nijmegen Breakage Syndrome |
|
Retrognathia, Non-midline cleft lip, Convex nasal ridge, Prominent nose, Deep philtrum, Anal atre... |
ORPHA:647 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate |
OMIM:243440 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Thyroiditis, Relative macrocephaly, Midface retrusion, Type I diabetes mellitus, ... |
ORPHA:228426 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Arrhinencephaly, Microretrognathia, Malar flattening, Prominent nasal bridge |
ORPHA:1788 |
| Isolated Cleft Lip |
|
Non-midline cleft lip, Supernumerary maxillary incisor, Bilateral cleft lip, Hypodontia, Velophar... |
ORPHA:199302 |
| 6Q Terminal Deletion Syndrome |
|
Plagiocephaly, Micrognathia, Thick vermilion border, Macrocephaly, Dolichocephaly, High, narrow p... |
ORPHA:75857 |
| Noonan Syndrome 2 |
|
High palate, Micrognathia, Relative macrocephaly, Midface retrusion, Cryptorchidism |
OMIM:605275 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Retrognathia, Mandibular aplasia, Abnormality of the anus, Wide nasal bridge, Abnormal... |
ORPHA:2556 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
| Leigh Syndrome With Cardiomyopathy |
|
Retinopathy, Basal ganglia gliosis, Neuronal loss in basal ganglia, Optic atrophy, Abnormality of... |
ORPHA:70474 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Micrognathia, Microdontia, Frontal bossing, Hypoplasia of the maxilla, Narrow mouth,... |
OMIM:224690 |
| Stickler Syndrome, Type V |
|
Pierre-Robin sequence, Midface retrusion |
OMIM:614284 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Simplified gyral pattern, Protruding tongue, Microcephaly, Pachygyria, Hypoplasia ... |
OMIM:619179 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Hypothyroidism, Abnormality of the anus, Wide nasal bridge, Lateral ventricle dila... |
OMIM:607872 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth... |
ORPHA:1780 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... |
ORPHA:66529 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hypoplasia of the corpus callosum, Thin upper lip vermilion, Narrow mouth, Agenesis of corpus cal... |
OMIM:613735 |
| Cherubism |
|
Dental malocclusion, Narrow palate, Jaw swelling, Marcus Gunn pupil, Oligodontia, Macular scar, A... |
OMIM:118400 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft mandible, Prominent nose, High palate, Pierre-Robin sequence, Micrognathia, Cleft lower alv... |
OMIM:268305 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Microcephaly, Lateral ventricle dilatation |
OMIM:607596 |
| Vacterl With Hydrocephalus |
|
Retrognathia, Aqueductal stenosis, Esophageal atresia, Spina bifida, Micrognathia, Arrhinencephal... |
ORPHA:3412 |
| Noonan Syndrome 14 |
|
Long philtrum, Lateral ventricle dilatation, High, narrow palate, Wide mouth, Prominent nasolabia... |
OMIM:619745 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Wide mouth, Thick vermilion border, Microcephaly, Hypoplasia of the corpus callosum,... |
ORPHA:363528 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Spina bifida occulta, C... |
OMIM:300373 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Birk-Landau-Perez Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Optic atrophy, Pachygyria |
OMIM:617595 |
| Vici Syndrome |
|
Cleft upper lip, High palate, Everted upper lip vermilion, Long philtrum, Ocular albinism, Macula... |
OMIM:242840 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Later... |
OMIM:300952 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Basal ganglia calcification |
OMIM:618317 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Retrognathia, Broad columella, Spina bifida occulta, Wide nasal base, Broad nasal tip, Depressed ... |
ORPHA:488434 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Micrognathia, Bifid uvula, Retinal dysplasia, Aprosencephaly |
OMIM:601374 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Depressed nasal bridge, Midface retrusion, Anteverted nares |
ORPHA:83629 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum |
OMIM:112310 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Hypoplasia of the corpus callosum, Cleft palate, Dysplastic corpus callosum,... |
OMIM:614924 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Thickened calvaria, Mandibular prognathia, Hypogonadism, Wide mouth, Thick vermilion border, Bifi... |
ORPHA:2658 |
| Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Conical tooth, Cleft upper lip, Micrognathia, Pyloric stenosis, Supernumerary... |
OMIM:263750 |
| Multiple Synostoses Syndrome 1 |
|
Underdeveloped nasal alae, Thick upper lip vermilion, Wide nasal bridge, Short philtrum, Asymmetr... |
OMIM:186500 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microcephaly, Hypoplasia of the corpus ca... |
OMIM:611134 |
| Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Microretrognathia, Submucous cleft soft palate, Tented ... |
OMIM:612292 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Plagiocephaly, Wide nasal bridge, Micrognathia, Macroglossia, Frontal bossing,... |
ORPHA:96334 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Retrognathia, Long philtrum, Deep philtrum, Frontal bossing, Depressed nasal bridge, Microcephaly... |
OMIM:613563 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Short philtru... |
OMIM:619575 |
| Thanatophoric Dysplasia, Type I |
|
Macrocephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Cloverleaf skull |
OMIM:187600 |
| Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Micrognathia, Ankyloglossia, Absent nipple, Microretrognathia, Cleft palate,... |
OMIM:618021 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Wide nasal bridge, Delayed eruption of teeth, Widely spaced... |
ORPHA:1071 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Choanal stenosis, Biliary hyperplasia, Pancreatic hypopl... |
ORPHA:83617 |
| Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplastic corpus callosum, Abnormal... |
ORPHA:2524 |
| Coffin-Siris Syndrome 1 |
|
Brachycephaly, Conical tooth, Plagiocephaly, Delayed eruption of teeth, Microdontia, Spina bifida... |
OMIM:135900 |
| Diamond-Blackfan Anemia 1 |
|
Retrognathia, Parietal foramina, Cleft upper lip, High palate, Depressed nasal ridge, Micrognathi... |
OMIM:105650 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Malar flattening, Spinal dysraphism, Midface retrusion |
OMIM:603546 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Delayed eruption of tee... |
ORPHA:94089 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia, Cardiomyopathy |
OMIM:616483 |
| Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplasia of the fovea, Coloboma, Aniridia |
ORPHA:2334 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short philtrum, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Agenesis of corpus callosum |
OMIM:612337 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Long philtrum, Optic disc hypoplasia, Thin upper lip vermilion, Secondary microcephaly, Fusion of... |
OMIM:619306 |
| Chand Syndrome |
|
Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth... |
ORPHA:1401 |
| Monosomy 9P |
|
Brachycephaly, High palate, Long philtrum, Abnormality of the dentition, Micrognathia, Short nose... |
ORPHA:261112 |
| Hermansky-Pudlak Syndrome 10 |
|
Retrognathia, Microcephaly, Smooth philtrum |
OMIM:617050 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Sagittal craniosynostosis, Ventriculomegaly, Lateral ventricle dilatation, Wi... |
ORPHA:500150 |
| Al-Gazali Syndrome |
|
Micrognathia, Midface retrusion |
OMIM:609465 |
| Optic Atrophy 11 |
|
Macrocephaly, Midface retrusion, Ventriculomegaly, Microcephaly |
OMIM:617302 |
| Dyskeratosis Congenita |
|
Abnormal testis morphology, Periodontitis, Malabsorption, Hypodontia, Neoplasm of the pancreas, T... |
ORPHA:1775 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Macrocephaly, Breast aplasia, Microretrognathia, Intestinal polyposis, Frontal bossing, Depressed... |
ORPHA:276413 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Midface retrusion |
ORPHA:93296 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Lateral ventricle dilatation, Bifid uvula, Breast aplasia, Agenesis of per... |
OMIM:181270 |
| Kabuki Syndrome 1 |
|
Premature thelarche, High palate, Lateral ventricle dilatation, Wide nasal bridge, Malabsorption,... |
OMIM:147920 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Retrognathia, Prominent nose, Abnormal calcium-phosphate regulating hormone level, Micrognathia, ... |
ORPHA:2636 |
| Vexas Syndrome |
|
Nasal chondritis, Chondritis of pinna |
OMIM:301054 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebral calcification, Abnormal basal ganglia morph... |
ORPHA:228308 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:617668 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the corpus call... |
ORPHA:457284 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Dental malocclusion, Abnormality of thalamus morphology, Selective tooth agenesis, Hypodontia, Mi... |
ORPHA:2959 |
| Marden-Walker Syndrome |
|
Retrognathia, Micrognathia, Pyloric stenosis, Bifid uvula, Hydrocephalus, Submucous cleft hard pa... |
ORPHA:2461 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Midface retrusion |
ORPHA:435804 |
| Acrofrontofacionasal Dysostosis 1 |
|
Brachycephaly, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Wide mouth, Oligodontia... |
OMIM:201180 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Orofaciodigital Syndrome Type 1 |
|
Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, A... |
ORPHA:2750 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Brachycephaly, Tooth malposition, High palate, Plagiocephaly, Prominence of the zyg... |
ORPHA:2785 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Depressed nasal bri... |
ORPHA:226313 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Long philtrum, Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, D... |
ORPHA:357058 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Agenesis of corpus callosum, Cerebella... |
OMIM:620073 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Micrognathia, Thin upper lip vermilion, Crypt... |
ORPHA:1300 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, Natal tooth, Hypodontia, Supe... |
ORPHA:353281 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Thin corpus callosum, Partial agenesis of the corpus callosum |
OMIM:619653 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Lateral ventricle dilatation |
ORPHA:77299 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental malocclusion, Talon cusp, Convex nasal ridge, High palate, Narrow palate, Natal tooth, Mic... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental malocclusion, Talon cusp, Convex nasal ridge, High palate, Narrow palate, Natal tooth, Mic... |
ORPHA:353277 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Wide nasal bridge, Lateral ventricle dilatation, Short lingual frenulum, Microd... |
OMIM:619479 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Peripheral... |
OMIM:618733 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Underdeveloped nasal alae, Retrognathia, Hypothyroidism, Premature thelarche, Decreased response ... |
ORPHA:268261 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Brachycephaly, Wide anterior fontanel, Absent nasal bridge, Natal tooth, Micr... |
OMIM:617925 |
| Branchiootic Syndrome |
|
Lip pit, Preauricular pit, Micrognathia, Preauricular skin tag, Cleft palate, Branchial fistula |
ORPHA:52429 |
| Cree Mental Retardation Syndrome |
|
Micrognathia, Coloboma, Cleft soft palate |
OMIM:606851 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Delayed eruption of primary teeth, Widely spaced teeth, Midface retrusion, Microcephaly, Dental c... |
OMIM:617799 |
| Trichothiodystrophy |
|
Retrognathia, Enamel hypoplasia, Ventriculomegaly, Hypoplasia of mandible relative to maxilla, Cr... |
ORPHA:33364 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Lobulated tongue, Bifid tongue, Bilateral cryp... |
ORPHA:434179 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Midface retrusion, Ventriculomegaly |
OMIM:618707 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Wide nasal bridge, Micrognathia, ... |
ORPHA:989 |
| Otopalatodigital Syndrome, Type Ii |
|
Wide anterior fontanel, Spina bifida, Micrognathia, Hydrocephalus, Midface retrusion, Frontal bos... |
OMIM:304120 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, High palate, Ventriculomegaly, Wide nasal bridge, Lateral ventricle dil... |
ORPHA:572798 |
| Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia |
OMIM:191830 |
| Genitopatellar Syndrome |
|
Wide nose, Hypothyroidism, Prominent nose, Wide nasal bridge, Delayed eruption of teeth, Malrotat... |
OMIM:606170 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Cerebral calcification, Pachygyria, Abnormal basal ganglia morphol... |
ORPHA:157 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Choanal stenosis, Ventriculomegaly, Midface retrusion, Macroglossia, Short nose, Depressed nasal ... |
OMIM:269150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Bartsocas-Papas Syndrome 1 |
|
Underdeveloped nasal alae, Cleft upper lip, Micrognathia, Bilateral cryptorchidism, Oral synechia... |
OMIM:263650 |
| Alexander Disease |
|
High palate, Aqueductal stenosis, Abnormal autonomic nervous system physiology, Hydrocephalus, Ce... |
ORPHA:58 |
| Chromosome 17Q12 Deletion Syndrome |
|
Retrognathia, Mandibular prognathia, High palate, Micrognathia, Abnormal upper lip morphology, Fr... |
OMIM:614527 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Wide nasal bridge, Preauricular pit, Microretrognathia, Carious teeth |
OMIM:615560 |
| Neurofibromatosis-Noonan Syndrome |
|
Prominent nasolabial fold, Midface retrusion, Macrocephaly, Depressed nasal bridge, Cryptorchidis... |
OMIM:601321 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Narrow palate, Death in infancy, Agenesis of corpus callosum, Basal ganglia cysts, M... |
OMIM:608836 |
| Non-Functioning Pituitary Adenoma |
|
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... |
ORPHA:91349 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypoplasia of the corpus callosum, Thin vermilion border, Partial agenesis of the corpus callosum... |
OMIM:618109 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy |
OMIM:619423 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Short philtrum, Midface retrusion |
OMIM:618451 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Coloboma, Pheochromocytoma |
ORPHA:2874 |
| Spondyloperipheral Dysplasia |
|
Malar flattening, Depressed nasal bridge, Midface retrusion |
OMIM:271700 |
| Isotretinoin-Like Syndrome |
|
Micrognathia, Hydrocephalus, Microcephaly, Anteverted nares, Preauricular skin tag, Cleft palate |
ORPHA:2306 |
| Mosaic Trisomy 20 |
|
Retrognathia, Craniofacial asymmetry, Micrognathia, Cleft lip, Cryptorchidism, Cleft palate |
ORPHA:1724 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Mandibular prognathia, Otosclerosis, Wide anterior fontanel, Large intestinal pol... |
ORPHA:116 |
| Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Plagiocephaly, Wide nasal bridge, Hypodontia, Narrow mouth, Smooth phi... |
ORPHA:1973 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Delayed eruption of tee... |
ORPHA:79444 |
| Tooth Agenesis, Selective, 4 |
|
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... |
OMIM:150400 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Midface retrusion |
OMIM:612581 |
| Fryns Syndrome |
|
Cleft upper lip, Long philtrum, Wide mouth, Esophageal atresia, Aganglionic megacolon, Arrhinence... |
OMIM:229850 |
| Semilobar Holoprosencephaly |
|
High palate, Neural tube defect, Bifid uvula, Abnormality of the autonomic nervous system, Hydroc... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
High palate, Neural tube defect, Bifid uvula, Abnormality of the autonomic nervous system, Hydroc... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
High palate, Neural tube defect, Bifid uvula, Abnormality of the autonomic nervous system, Hydroc... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
High palate, Neural tube defect, Bifid uvula, Abnormality of the autonomic nervous system, Hydroc... |
ORPHA:93924 |
| Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Lateral ventr... |
ORPHA:356961 |
| Bloom Syndrome |
|
Prominent nose, Agenesis of maxillary lateral incisor, Type II diabetes mellitus, Dolichocephaly,... |
OMIM:210900 |
| Cleft Lip And Alveolus |
|
Abnormal nasal morphology, Hypodontia, Lip pit, Abnormal nasal septum morphology |
ORPHA:141291 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Malar flattening, Midface retrusion, Long philtrum |
OMIM:171480 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Long philtrum, Posterior pituitary hypoplasia, Everted low... |
ORPHA:75389 |
| Knobloch Syndrome |
|
Pyloric stenosis, Hydrocephalus, Midface retrusion, Depressed nasal bridge, Calvarial skull defec... |
ORPHA:1571 |
| Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the philtrum, Cleft upper lip, Retinopathy, ... |
ORPHA:280 |
| Leigh Syndrome |
|
Encephalomalacia, Neuronal loss in basal ganglia, Optic atrophy, Focal T2 hyperintense basal gang... |
ORPHA:506 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Narrow nasal tip, Wide nasal bridge, Widely spaced teeth, Macrocephaly, Supernumerary nipple, Thi... |
ORPHA:477993 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Supraauricular pit, Supernumerary nipple, Cleft of chin, Cleft palate, Branchial an... |
OMIM:113620 |
| Kleefstra Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosi... |
ORPHA:261494 |
| Meckel Syndrome, Type 1 |
|
Lobulated tongue, Cleft upper lip, Wide mouth, Natal tooth, Cerebellar hypoplasia, Cerebral hypop... |
OMIM:249000 |
| Bilateral Generalized Polymicrogyria |
|
Microcephaly, Lateral ventricle dilatation |
ORPHA:208447 |
| Bloom Syndrome |
|
Retrognathia, Stomach cancer, Rhinitis, Decreased head circumference, Micrognathia, Esophageal ne... |
ORPHA:125 |
| Noonan Syndrome |
|
High palate, Thick lower lip vermilion, Micrognathia, Midface retrusion, Cryptorchidism, Hypogona... |
ORPHA:648 |
| Opitz Gbbb Syndrome |
|
High palate, Long philtrum, Ectopic anus, Natal tooth, Hypodontia, Ankyloglossia, Anal atresia, D... |
ORPHA:2745 |
| Roberts-Sc Phocomelia Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Cleft upper lip, High palate, Narrow naris, Wide nasal ... |
OMIM:268300 |
| Bone Marrow Failure Syndrome 4 |
|
Midface retrusion, Microcephaly |
OMIM:618116 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Prominent nose, Skull asymmetry, Wide nasal bridge, Plagiocephaly, Deep ph... |
OMIM:150230 |
| Jacobsen Syndrome |
|
Long philtrum, Abnormality of the anus, Ectopic anus, Spina bifida, Death in infancy, Pyloric ste... |
ORPHA:2308 |
| Keutel Syndrome |
|
Wide nasal bridge, Deep philtrum, Recurrent bronchitis, Midface retrusion, Chronic sinusitis, Cal... |
OMIM:245150 |
| Townes-Brocks Syndrome 1 |
|
Hypothyroidism, Preauricular pit, Hydrocephalus, Rectoperineal fistula, Duodenal atresia, Anal at... |
OMIM:107480 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:618890 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Micrognathia, Bifid uvula, Spina bifida occulta, Cleft palate, Lambdoidal craniosy... |
OMIM:218600 |
| Loeys-Dietz Syndrome 1 |
|
Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia, Bifid uvula, Hydrocephalu... |
OMIM:609192 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Thin corpus callosum, Hypothalamic hamartoma, Diffuse cerebral atrophy |
OMIM:619908 |
| Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Abnormal putamen morphology, Abnormal caudate nucleus morp... |
ORPHA:157846 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... |
ORPHA:488627 |
| Phace Syndrome |
|
Retinal vascular malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Optic nerve hy... |
ORPHA:42775 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Abno... |
ORPHA:91350 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Underdeveloped nasal alae, Wide mouth, Deep philtrum, Preauricular pit, Macrocephaly, Midface ret... |
ORPHA:163956 |
| Posterior Urethral Valve |
|
Abnormal nasal morphology, Retrognathia |
ORPHA:93110 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec... |
ORPHA:95715 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Turricephaly, Midface retrusion, Recurrent sinusitis, Frontal bossing, Narrow nose |
OMIM:607944 |
| Rett Syndrome, Congenital Variant |
|
Midface retrusion, Thin upper lip vermilion, Progressive microcephaly, Depressed nasal bridge, Bu... |
OMIM:613454 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
| Okamoto Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Exaggerated median tongue furrow, Midface retrusion... |
ORPHA:2729 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, Aplasia/Hypoplasia of the corpus callosum, High palate, Tongue nodules, Microgn... |
ORPHA:2754 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Macrocephaly, Midface retrusion, Frontal bossing |
ORPHA:529965 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Sagittal craniosynostosis, Elevated circulating thyroid-... |
OMIM:610199 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, High palate, Coloboma, Micrognathia, Short philtrum, Anal atresia, Thin up... |
OMIM:309500 |
| Histiocytoid Cardiomyopathy |
|
Cleft palate, Agenesis of corpus callosum, Hydrocephalus, Optic atrophy |
ORPHA:137675 |
| Pilarowski-Bjornsson Syndrome |
|
Macrocephaly, Midface retrusion, Frontal bossing |
OMIM:617682 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Depressed nasal bridge, Macrocephaly, Midface retrusion |
OMIM:151210 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Delayed eruption of tee... |
ORPHA:79443 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Pre... |
OMIM:154500 |
| Encephalocraniocutaneous Lipomatosis |
|
Retinopathy, Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral calcification, Iri... |
ORPHA:2396 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Short philtrum, Open mouth, Midface retrusion, Cryptorchidism |
OMIM:301039 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Wide mouth, Microdontia, Oligodontia, Short philtrum, Hypoplasia of the maxil... |
ORPHA:2044 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Bifid tongue, Anal atresia, Intestinal malrotation, Cleft palate, Hamartoma of t... |
OMIM:613091 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Death in infancy, Spina bifida, Micrognathia, Porencephalic cyst, ... |
ORPHA:1393 |
| Melas |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Optic atrophy, Aplasia/Hypoplasia of the cereb... |
ORPHA:550 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal periventricular white matter morphology, Cerebral edema, Hypointensity of cerebral white... |
ORPHA:83597 |
| Wiedemann-Rautenstrauch Syndrome |
|
Convex nasal ridge, Submucous cleft soft palate, Cranial asymmetry, Increased serum estradiol, Ty... |
ORPHA:3455 |
| Hydranencephaly |
|
Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Atrophic pituitary gland, Dysgen... |
ORPHA:2177 |
| Sotos Syndrome |
|
High palate, Narrow palate, Advanced eruption of teeth, Partial agenesis of the corpus callosum, ... |
OMIM:117550 |
| Degcags Syndrome |
|
Plagiocephaly, Ventriculomegaly, Micrognathia, Smooth philtrum, Intestinal atresia, Prominent nos... |
OMIM:619488 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Retrognathia, Spina bifida occulta, Malar flattening |
OMIM:611929 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Long philtrum, Micrognathia, Midface retrusion, Long upper lip, Malar flattening, Cl... |
OMIM:271640 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Aniridia |
OMIM:610256 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Ventriculomegaly, Hypogonadism, Decreased testicular ... |
ORPHA:398079 |
| Coffin-Siris Syndrome 4 |
|
Everted upper lip vermilion, Long philtrum, Wide mouth, Thick lower lip vermilion, Short philtrum... |
OMIM:614609 |
| Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... |
ORPHA:300385 |
| Focal Dermal Hypoplasia |
|
Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Myelomeningocele, Optic atrophy, Delayed... |
OMIM:305600 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Partial agenesis of the co... |
OMIM:616051 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent nose, Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Short philtrum, Promin... |
OMIM:210710 |
| Amme Complex |
|
Thin upper lip vermilion, Depressed nasal bridge, Midface retrusion, Umbilical hernia |
OMIM:300194 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Adrenal insufficiency, Decreased circulating renin level, Decreased circulating co... |
OMIM:201750 |
| Phocomelia, Schinzel Type |
|
Meningocele, Micrognathia, Anal atresia, Short nose, Tracheoesophageal fistula, Cryptorchidism, C... |
ORPHA:2879 |
| Hutchinson-Gilford Progeria Syndrome |
|
Convex nasal ridge, Narrow nasal tip, Pubertal developmental failure in females, Delayed eruption... |
ORPHA:740 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit... |
ORPHA:85167 |
| Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Coloboma, Death in infancy, Micro... |
OMIM:618183 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Brachycephaly, Hypothyroidism, Midface retrusion, Steatorrhea, Diabetes mellitus, Secondary micro... |
OMIM:616263 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Primary microcephaly, Full cheeks, Microcephaly, Cryptorchidism |
OMIM:619847 |
| New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... |
ORPHA:363558 |
| Fraser Syndrome 1 |
|
Midline nasal groove, Wide nasal bridge, Abnormality of the anus, Calvarial skull defect, Cleft p... |
OMIM:219000 |
| Cohen-Gibson Syndrome |
|
Retrognathia, Wide nasal bridge, Macrocephaly, Depressed nasal bridge, Cryptorchidism, Umbilical ... |
OMIM:617561 |
| Japanese Encephalitis |
|
Cerebral edema, Abnormal substantia nigra morphology, Abnormal cerebral morphology, Abnormality o... |
ORPHA:79139 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Retrognathia, Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Type ... |
OMIM:602782 |
| Ring Chromosome 13 Syndrome |
|
Retinoblastoma, Abnormal retinal morphology, High palate, Abnormality of the incisor, Anencephaly... |
ORPHA:96176 |
| Craniofrontonasal Syndrome |
|
Cleft upper lip, Hypoplasia of the corpus callosum, Cleft palate, Agenesis of corpus callosum, Ab... |
OMIM:304110 |
| Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology |
ORPHA:88619 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Rod-cone dystrophy, Long philtrum, Hypodontia, Pyloric stenosis, Anal atresia, Smooth philtrum, T... |
OMIM:618419 |
| Tetraamelia Syndrome 1 |
|
Single naris, Cleft upper lip, Adrenal gland agenesis, Micrognathia, Hydrocephalus, Anal atresia,... |
OMIM:273395 |
| Marfan Syndrome |
|
Retrognathia, Meningocele, Micrognathia, Dolichocephaly, Dental crowding, Abnormal zygomatic bone... |
ORPHA:558 |
| Mosaic Trisomy 8 |
|
Cleft palate, High palate, Agenesis of corpus callosum |
ORPHA:96061 |
| Neuroocular Syndrome |
|
Retrognathia, Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Midface retrusion,... |
OMIM:619539 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia |
OMIM:618022 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Oculopalatocerebral Syndrome |
|
Cleft palate, Remnants of the hyaloid vascular system, Microcephaly |
OMIM:257910 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Retrognathia, Brachycephaly, Congenital shortened small intestine, Ventriculomegaly, Esophageal a... |
OMIM:265380 |
| Stiff Skin Syndrome |
|
Type II diabetes mellitus, Midface retrusion |
ORPHA:2833 |
| Wrinkly Skin Syndrome |
|
Scaphocephaly, High palate, Wide anterior fontanel, Wide nasal bridge, Delayed eruption of teeth,... |
OMIM:278250 |
| Knobloch Syndrome 1 |
|
Ventriculomegaly, Occipital meningocele, Pyloric stenosis, Midface retrusion, Spina bifida occult... |
OMIM:267750 |
| Acro-Renal-Ocular Syndrome |
|
Coloboma, Aganglionic megacolon, Optic disc hypoplasia, Iris coloboma, Chorioretinal coloboma, Op... |
ORPHA:959 |
| Aneurysm-Osteoarthritis Syndrome |
|
Retrognathia, Dental malocclusion, High palate, Bifid uvula, Cleft palate, Malar flattening, Cran... |
ORPHA:284984 |
| Wolf-Hirschhorn Syndrome |
|
Short upper lip, Cleft upper lip, Periventricular cysts, Cavum septum pellucidum, Malrotation of ... |
OMIM:194190 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Dandy-Walker malformation, Median cleft... |
OMIM:236680 |
| Genitopatellar Syndrome |
|
Microcephaly, Long philtrum, Agenesis of corpus callosum, Delayed eruption of teeth |
ORPHA:85201 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Thin corpus callosum, Bifid uvula, Narrow mouth, Partial agenesis of the corpus cal... |
OMIM:619480 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Esophageal atresia, Arrhinencephaly, Perineal fistula, Agenesis of co... |
ORPHA:2538 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Wide nasal bridge, Micrognathia, Midface retrusion, Anteriorly placed anus, Partial agenesis of t... |
OMIM:220111 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy, Cherry red spot of the macula |
ORPHA:309155 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Microcephaly |
OMIM:300523 |
| Warburg-Cinotti Syndrome |
|
Underdeveloped nasal alae, High palate, Midface retrusion, Narrow nose, Dental crowding, Gingival... |
OMIM:618175 |
| Xp21 Deletion Syndrome |
|
Everted lower lip vermilion, Agenesis of corpus callosum |
ORPHA:261476 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Brachycephaly, Lateral ventricle dilatation, Median cleft lip, Intestinal malrotation, Microgloss... |
OMIM:263520 |
| 1P36 Deletion Syndrome |
|
Brachycephaly, Hypothyroidism, Depressed nasal ridge, Wide nasal bridge, Ventriculomegaly, Abnorm... |
ORPHA:1606 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Open mouth, Microcephaly, Lateral ventricle dilatation, Cryptorchidism |
ORPHA:565624 |
| Neu-Laxova Syndrome 1 |
|
Cleft upper lip, Primary microcephaly, Thick lower lip vermilion, Spina bifida, Cerebellar hypopl... |
OMIM:256520 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High palate, Coloboma, Ankyloglossia, Hydrocephalus, Short philtrum, Neurofibromas, Thin upper li... |
OMIM:619475 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Widely spaced teeth, Aganglionic megacolon, Pyloric stenosis, Agenesis... |
OMIM:235730 |
| Meningioma |
|
Enlarged pituitary gland, Neoplasm of the tongue, Increased circulating prolactin concentration, ... |
ORPHA:2495 |
| Williams-Beuren Syndrome |
|
Dental malocclusion, Hypothyroidism, Colonic diverticula, Early onset of sexual maturation, Long ... |
OMIM:194050 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Volvulus, Agenesis of corpus callosum, Tented upper lip vermilion, O... |
OMIM:267000 |
| Hunter-Macdonald Syndrome |
|
Brachycephaly, Midface retrusion, Short philtrum, Thin upper lip vermilion, Malar flattening, Umb... |
OMIM:611962 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Retrognathia, Narrow naris, Wide nasal bridge, Bilateral cryptorchidism, Bulbous nose |
OMIM:617403 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
| Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum, Midface retrusion, Anteverted nares |
ORPHA:420794 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Cleft upper lip, Branchial anomaly, Wide mouth, Micrognathia, Hydrocepha... |
OMIM:164210 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Microcephaly, Hypoplasia of the cor... |
OMIM:227646 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Intestinal malrotation, Midface retrusion, Solitary median maxillary central incisor, High palate |
OMIM:619657 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Macular atrophy, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus... |
OMIM:619418 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Macrocephaly, Lateral ventricle dilatation |
OMIM:256850 |
| Monosomy 13Q34 |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:96168 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| 14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Agenesis of corpus callosum |
ORPHA:264200 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Ventriculomegaly, Hypogonadism, Decreased testicular ... |
ORPHA:398069 |
| Singleton-Merten Syndrome 1 |
|
Eruption failure, Hypoplasia of the maxilla, Thin upper lip vermilion, Carious teeth, Smooth phil... |
OMIM:182250 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:3339 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Glutaric Acidemia I |
|
Macrocephaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cryptorchi... |
OMIM:119500 |
| Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the small intestine, Adenocarcinoma of the colon, Plexiform neurofibroma, Adeno... |
OMIM:276300 |
| Yunis-Varon Syndrome |
|
Gingival recession, Short upper lip, Hypoplasia of the frontal lobes, Broad secondary alveolar ri... |
ORPHA:3472 |
| Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation, Abnormal thalami... |
ORPHA:48818 |
| Viss Syndrome |
|
Brachycephaly, Hypothyroidism, Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Submuc... |
OMIM:619472 |
| Loeys-Dietz Syndrome 2 |
|
Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia, Bifid uvula, Hydrocephalu... |
OMIM:610168 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duct, Hypod... |
OMIM:149730 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Spina bifida, Abnormality of dental morphology, Hydrocephalus, Everted lower lip v... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Spina bifida, Abnormality of dental morphology, Hydrocephalus, Everted lower lip v... |
ORPHA:363958 |
| Brain-Lung-Thyroid Syndrome |
|
Hypodontia, Microcephaly, Agenesis of corpus callosum, Cavum septum pellucidum |
ORPHA:209905 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Retrognathia, High, narrow palate |
ORPHA:91387 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Lateral ventricle dilatation, Wide nasal bridge, Delayed eruption of teeth, P... |
ORPHA:261537 |
| Esophageal Atresia |
|
Coloboma, Pyloric stenosis, Tracheoesophageal fistula, Intestinal malrotation, Cleft lip, Esophag... |
ORPHA:1199 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Microcephaly |
OMIM:617397 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Hypogonadism, Bilateral cryptorchidism, Hydrocephalus, Midface retrusion, Abnormal... |
ORPHA:3042 |
| Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly, Midface retrusion, Microcephaly, Anteverted nares, Open mouth, Sunken cheeks |
OMIM:615273 |
| Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland |
ORPHA:643 |
| Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Macroglossia, Retinal coloboma, Thick vermilion border |
OMIM:617107 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
| Prolactinoma |
|
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
| Coffin-Siris Syndrome |
|
Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Simplified gyral pattern, Agene... |
ORPHA:1465 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Decreased thalamic volume, Microcephaly, Cerebral white matter hypop... |
ORPHA:168577 |
| Tay-Sachs Disease |
|
Abnormal thalamic MRI signal intensity, Cherry red spot of the macula, Hypointensity of cerebral ... |
ORPHA:845 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Death in infancy |
OMIM:619046 |
| Gangliocytoma |
|
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Pituit... |
ORPHA:251937 |
| Marfan Syndrome |
|
Retrognathia, High palate, Narrow palate, Micrognathia, Dolichocephaly, Dental crowding, Malar fl... |
OMIM:154700 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Brachycephaly, Ventriculomegaly, Cleft soft palate, Delayed eruption of teeth, Micrognathia, Prom... |
OMIM:619503 |
| Pyruvate Carboxylase Deficiency |
|
Periventricular cysts, Basal ganglia gliosis, Hyperintensity of cerebral white matter on MRI, Cer... |
ORPHA:3008 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Midface retrusion |
ORPHA:280229 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Intestinal perforation, Vitreous hemorrhage, Cerebral calcification, Abnormal... |
ORPHA:464321 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... |
OMIM:617872 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Microcephaly, Agenesis of corpus callosum |
OMIM:605376 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Relative macrocephaly, Midface retrusion, Platybasia, Frontal bossing, Depressed nasal bridge |
OMIM:618019 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Microcephaly, Lateral ventricle dilatation |
OMIM:619278 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly, Death in infancy |
OMIM:617478 |
| Simpson-Golabi-Behmel Syndrome |
|
Cleft upper lip, Wide mouth, Death in infancy, Macroglossia, Dandy-Walker malformation, Cleft pal... |
ORPHA:373 |
| Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Wide nasal bridge, Microdontia, B... |
OMIM:242900 |
| Peroxisome Biogenesis Disorder 1B |
|
Convex nasal ridge, Midface retrusion, Wide nasal bridge |
OMIM:601539 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Wide mouth, Widely spaced teeth, Dental crowding, Short philtrum, ... |
ORPHA:466791 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
| Loeys-Dietz Syndrome 3 |
|
Retrognathia, Dental malocclusion, High palate, Eosinophilic infiltration of the esophagus, Bifid... |
OMIM:613795 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macrocephaly, Midface retrusion, Macroglossia, Spina bifida occulta, Thick vermilion border |
ORPHA:500095 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Microcephaly, Lateral ventricle dilatation |
OMIM:619487 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... |
OMIM:275000 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
| Norrie Disease |
|
Cerebral cortical atrophy, Optic atrophy, Abnormal chorioretinal morphology, Remnants of the hyal... |
ORPHA:649 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Female hypogonadism, Increased circulating prolactin concentration, Hyp... |
ORPHA:91347 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Long philtrum |
OMIM:615877 |
| Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bifid uvula, Everted lower lip vermilion, Iris coloboma, Cleft palate,... |
ORPHA:2152 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, High palate, Esophageal atresia, Thick lower lip vermilion, ... |
ORPHA:506358 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Downturned corners of mouth, Midface retrusion |
OMIM:619557 |
| Nasolacrimal Duct Cyst |
|
Deviated nasal septum, Nasal congestion |
ORPHA:141083 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Retrognathia, High urinary gonadotropin level, Hyperinsulinemia, High palate, Micrognathia, Type ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Retrognathia, High urinary gonadotropin level, Hyperinsulinemia, High palate, Micrognathia, Type ... |
ORPHA:99228 |
| Monosomy X |
|
Retrognathia, High urinary gonadotropin level, Hyperinsulinemia, High palate, Micrognathia, Type ... |
ORPHA:99226 |
| Turner Syndrome |
|
Retrognathia, High urinary gonadotropin level, Hyperinsulinemia, High palate, Micrognathia, Type ... |
ORPHA:881 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical carcinoma, Midface retrusion, Macroglossia, Prominent occi... |
OMIM:130650 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Midface retrusion |
OMIM:613095 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Small pituitary gland, Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele |
OMIM:614195 |
| Williams Syndrome |
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Peptic ulcer, Cerebral cortical atrophy, Colonic diverticula, Microdontia, Micrognathia, Retinal ... |
ORPHA:904 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Retrognathia, Abnormality of the anterior pituitary, Increased circulating prolactin concentratio... |
ORPHA:438213 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Midface retrusion |
ORPHA:93360 |
| Wiedemann-Rautenstrauch Syndrome |
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Long philtrum, Natal tooth, Delayed eruption of teeth, Hypodontia, Hydrocephalus, Dandy-Walker ma... |
OMIM:264090 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
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Dental malocclusion, Narrow palate, Wide mouth, Exaggerated median tongue furrow, Hydrocephalus, ... |
OMIM:312870 |
| Sting-Associated Vasculopathy, Infantile-Onset |
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Nasal septum perforation |
OMIM:615934 |
| Microphthalmia, Syndromic 1 |
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Cleft upper lip, Tooth malposition, High palate, Agenesis of maxillary lateral incisor, Aganglion... |
OMIM:309800 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Primary gonadal insufficiency, Decreased serum estradiol, Aplasia of the ovary, Absence of second... |
ORPHA:2232 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Secondary microcephaly, Lateral ventricle dilatation |
ORPHA:2148 |
| Pmm2-Cdg |
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Retrognathia, Hyperinsulinemia, Mandibular prognathia, Prominent nose, High palate, Elevated circ... |
ORPHA:79318 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Aqueductal stenosis, Lateral ventricle dilatation, Frontotemporal ... |
OMIM:619534 |
| Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Aganglionic megac... |
ORPHA:2273 |
| Cog2-Cdg |
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Small pituitary gland, Secondary microcephaly |
ORPHA:435934 |
| Congenital Disorder Of Glycosylation, Type Iiq |
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Small pituitary gland, Secondary microcephaly |
OMIM:617395 |
| Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Retrognathia, Long philtrum, Ventriculomegaly, Multiple enchondromatosis, Macrocephaly, Thin verm... |
ORPHA:99646 |
| Aprosencephaly Syndrome |
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Anencephaly, Aprosencephaly |
OMIM:207770 |
| Proximal Renal Tubular Acidosis |
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Malabsorption, Enamel hypomineralization, Coloboma |
ORPHA:47159 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
| Joubert Syndrome 38 |
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Decreased response to growth hormone stimulation test, Frontal bossing, Small pituitary gland, Ec... |
OMIM:619476 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity, Intestinal pseudo-obstruction |
ORPHA:70595 |
| Bickerstaff Brainstem Encephalitis |
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Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system, Abnormal ... |
ORPHA:79138 |
| Hyperthyroidism, Familial Gestational |
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Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| Townes-Brocks Syndrome |
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Wide mouth, Rectoperineal fistula, Anal atresia, Anteriorly placed anus, Iris coloboma, Chorioret... |
ORPHA:857 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Anteriorly placed anus, Rectoperineal fistula, Agenesis of corpus callosum |
OMIM:618748 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:289548 |
| Developmental And Epileptic Encephalopathy 108 |
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Small pituitary gland |
OMIM:620115 |
| Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation, Increased head circumference |
OMIM:612301 |
| Thyroid Hormone Resistance, Selective Pituitary |
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Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Choreoacanthocytosis |
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Protruding tongue, Temporomandibular joint crepitus, Lateral ventricle dilatation |
ORPHA:2388 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Decrease... |
OMIM:610978 |
| Igg4-Related Ophthalmic Disease |
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Abnormality of the anterior pituitary, Sialadenitis, Abnormality of the sphenoid sinus, Thyroidit... |
ORPHA:449563 |
| Non-Acquired Panhypopituitarism |
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Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Depressed n... |
ORPHA:90695 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Thy... |
OMIM:218700 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atresia, Cerebellar hypopl... |
ORPHA:93271 |
| Monosomy 22Q13.3 |
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Dental malocclusion, Dental crowding, Agenesis of corpus callosum |
ORPHA:48652 |
| Yunis-Varon Syndrome |
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Short upper lip, Hypoplasia of the frontal lobes, High palate, Cerebellar hypoplasia, Premature l... |
OMIM:216340 |
| Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Autoimmune hypoparathyroidism, Atrophic gastritis, Anterior pituitary dysgenesis, Type I... |
ORPHA:227982 |
| Blue Diaper Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
| Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Atrophic gastritis, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adr... |
ORPHA:227990 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla |
OMIM:300106 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Lateral ventricle dilatation |
OMIM:607485 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
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Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Pituitary Hormone Deficiency, Combined, 6 |
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Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
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Prominent nose, Elevated circulating thyroid-stimulating hormone concentration, Thick lower lip v... |
OMIM:256040 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
| Woodhouse-Sakati Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Anodon... |
OMIM:241080 |
| Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
| Hyperthyroidism, Nonautoimmune |
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Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
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Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
| Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Thyroiditis, Chronic sinusitis, Sialadenitis |
ORPHA:449395 |
| Alström Syndrome |
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Gingivitis, Recurrent sinusitis, Tooth agenesis, Decreased circulating T4 concentration, Delayed ... |
ORPHA:64 |
