| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Renal cyst, Microphthalmia, Postaxial h... |
OMIM:611561 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Anophthalmia, Enlarged kidney, Polycystic kidney dys... |
OMIM:613885 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Ca... |
OMIM:614815 |
| Meckel Syndrome, Type 10 |
|
Cerebellar hypoplasia, Anencephaly, Bifid uvula, Camptodactyly, Dandy-Walker malformation, Postax... |
OMIM:614175 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Renal cyst, Microph... |
OMIM:603194 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Renal cyst... |
OMIM:611134 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal thorax morphology, Renal agenesis, Upper limb phocomelia, Syndactyly, Still... |
ORPHA:294975 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, 2-3 toe syndactyly, Hypoplasia of the brainstem, Renal dysplasia, Cerebellar h... |
OMIM:236500 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Dentinog... |
OMIM:184260 |
| Femoral-Facial Syndrome |
|
Long penis, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus, Orofacial cl... |
ORPHA:1988 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Iris coloboma, ... |
ORPHA:2839 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand... |
OMIM:614120 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... |
ORPHA:1692 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the thumb, Encephalocele, Aplasia/Hyp... |
ORPHA:1590 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Microcephaly, Cleft p... |
OMIM:601355 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... |
OMIM:614091 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Renal dysplasia, Lateral clavicle hook, Cleft... |
OMIM:613091 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Accessory oral frenul... |
OMIM:617927 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Clef... |
ORPHA:1106 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
| C Syndrome |
|
High palate, Renal cortical cysts, Short metacarpal, Wide mouth, Toe syndactyly, Clinodactyly, Hi... |
OMIM:211750 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... |
ORPHA:1505 |
| Hydrolethalus |
|
Anophthalmia, Gingival cleft, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Hydrocep... |
ORPHA:2189 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Polycystic kidney dysplasia, ... |
OMIM:617866 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly |
OMIM:233270 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Enlarged thorax, Cerebral cortical... |
ORPHA:2570 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Orofaciodigital Syndrome Vi |
|
Renal dysplasia, Toe syndactyly, Short femur, Radial deviation of finger, Postaxial hand polydact... |
OMIM:277170 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Joint s... |
OMIM:618167 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Delayed eruption of teeth, Camptodactyly, Overlapping toe, G... |
OMIM:619148 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... |
ORPHA:93323 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Abnormal thorax morphology, Agenesis of corpus callosum, Con... |
OMIM:164180 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hepatic cysts, Aplasia of the bladder, Anencephaly, Hydrocephalus, Postaxial foo... |
OMIM:612284 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Crossed Polysyndactyly |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of pe... |
ORPHA:2935 |
| Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Thoracic dysplasia, Median cleft lip, Holoprosencephaly, Short palm, Short toe, ... |
OMIM:269860 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater s... |
OMIM:616300 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, N... |
ORPHA:66637 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Renal cortical cysts, Thoracic hypoplasia, Renal dysplasia, Early ossification of ca... |
ORPHA:397715 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Death in infancy... |
ORPHA:1393 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Edema, Microphthalmia, Rocker bottom foot, Intrauterine growth retardation... |
OMIM:616570 |
| Trisomy 13 |
|
Anophthalmia, Long philtrum, Aplasia/Hypoplasia of the iris, Narrow chest, Abnormal pelvic girdle... |
ORPHA:3378 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Anal atresia, Tracheoesophageal fistula... |
ORPHA:63862 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Vacterl/Vater Association |
|
Non-midline cleft lip, Preaxial hand polydactyly, Multicystic kidney dysplasia, Finger syndactyly... |
ORPHA:887 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Bifid uvul... |
OMIM:616258 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Renal dysplasia, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney dys... |
ORPHA:2538 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Aplasia/H... |
ORPHA:1908 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Occipital encephalocele, Agenesis of cerebellar vermis, Postax... |
OMIM:213010 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephal... |
ORPHA:1528 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypopla... |
OMIM:218670 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Retinal coloboma, Anencephaly, Hydrocephalus, Cerebellar vermis hy... |
OMIM:616546 |
| Pentalogy Of Cantrell |
|
Non-midline cleft lip, Abnormal sternum morphology, Encephalocele, Renal dysplasia, Anencephaly, ... |
ORPHA:1335 |
| Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Coloboma, Hydrocephalus, Short philtrum,... |
OMIM:614424 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Por... |
OMIM:258860 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Molar tooth sign on MRI, Postaxial foot polydactyly, Microphthalmia, Postaxia... |
OMIM:615665 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... |
ORPHA:63260 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Multicystic kidney dysplasia, Anophthalmia, C... |
ORPHA:261344 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
| Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Spina bifida, Iris coloboma, Deviation of finger, Cleft pala... |
ORPHA:1104 |
| Diprosopus |
|
Cleft palate, Anencephaly, Non-midline cleft lip |
ORPHA:1681 |
| Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Holoprosencephaly, Iris colob... |
ORPHA:3380 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
| 49,Xxxxy Syndrome |
|
Coxa valga, Delayed eruption of teeth, Renal dysplasia, Taurodontia, Hip dislocation, Elbow dislo... |
ORPHA:96264 |
| Trisomy 17P |
|
Flexion contracture, Tapered finger, High palate, Wide mouth, Thick vermilion border, Polycystic ... |
ORPHA:261290 |
| Caudal Regression Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Arrhinencephaly, Missing ribs, Renal agenesis, Anal a... |
ORPHA:3027 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Crossed fused renal ectopia, Agenesis of corpus callosum, Unilateral renal agenesis,... |
OMIM:618142 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand polydactyly, Pol... |
OMIM:615938 |
| Joubert Syndrome 7 |
|
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Stage 5 chronic kidney disease, Renal cy... |
OMIM:611560 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short thorax, Short metacarpal, Angel-shaped phalanx, Widely spaced teet... |
OMIM:617102 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial fo... |
ORPHA:139471 |
| Tarp Syndrome |
|
Short sternum, High palate, Postaxial polydactyly, Tongue nodules, Hypoplasia of the radius, Cere... |
OMIM:311900 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Lobar holoprosencephaly, Postaxial hand polydactyly, Furrowed ton... |
ORPHA:564 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Neonatal death, Epiphyseal stippling, Pachygyria |
OMIM:614870 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic dysplasia, Median cleft lip, Lateral clavicle hook, Postaxial polysynda... |
OMIM:263520 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Hypoplasia of the bladder, Abnormality of the ureter, Radial deviation o... |
OMIM:249000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Fryns Syndrome |
|
Thoracic hypoplasia, Camptodactyly, Hypoplasia of the optic tract, Cleft palate, Rocker bottom fo... |
OMIM:229850 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Deviation of the 5th finger, Unilatera... |
OMIM:616362 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Renal hypoplasia/aplasia, Arrhinencephaly, Radioulnar syn... |
ORPHA:1788 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Death in infancy, Hypoplasia of the radius, Stage 5 chronic kidney disease, Anal at... |
OMIM:613390 |
| Cerebrooculonasal Syndrome |
|
High palate, Anophthalmia, Long philtrum, Widely spaced teeth, Microdontia, Hypoplasia of penis, ... |
ORPHA:66625 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Roberts Syndrome |
|
Wrist flexion contracture, Long penis, Phocomelia, Radial deviation of finger, Cleft palate, Syno... |
ORPHA:3103 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Coloboma, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Median cleft lip, Holoprosencephaly, Fibular bowing, Talipes equinovar... |
OMIM:612651 |
| Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Arrhinencephaly, Stillbirth |
OMIM:300073 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Cerebral cortical atrophy, Ulnar deviation of the hand or of fingers of the hand, ... |
OMIM:214100 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Small cerebral cortex, Bilateral renal agenesis, Cerebellar hypoplasia, Simpli... |
OMIM:617914 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, High palate, Abnormal cerebral morphology, Renal dysplasi... |
OMIM:113650 |
| Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta |
OMIM:182940 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Renal cyst, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Short long bone, Polycystic kidney dysplasia, Decreased skull ossification, ... |
OMIM:263210 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Wide mouth, Hypospadias, Narrow mouth, Microcephaly, Thi... |
ORPHA:544254 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Aplasia/Hypoplasia affecting the eye, Clinodactyly of the 5th finger, Hypoplasia of penis, Microc... |
ORPHA:2216 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Renal agenesis, A... |
OMIM:120400 |
| Distal Tetrasomy 15Q |
|
Nephroblastoma, Abnormal sternum morphology, Flexion contracture, High palate, Abnormality of the... |
ORPHA:314588 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Aganglionic megacolon, Ankyloglossia, Bifid uvula, H... |
OMIM:174300 |
| Say Syndrome |
|
Tapered finger, Cystic renal dysplasia, Proximal renal tubular acidosis, Short distal phalanx of ... |
OMIM:181180 |
| Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Humeroradial synostosis, Cutaneous syndactyly of toes, Metatars... |
OMIM:612961 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Abnormal rib morphology, Toe syndactyly, Narrow chest,... |
ORPHA:474 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly, Abnormality of the... |
OMIM:615982 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short 2nd toe, Brachydactyly, Postaxial hand polydactyly, Short thumb, Glandular hypospadias |
OMIM:176305 |
| Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Renal cortical cysts, Death in infancy, Microcephaly, Cerebral atrophy, Thin... |
OMIM:609180 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, B... |
ORPHA:899 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Coloboma, Bullet-shaped distal phalanx of the hallux, To... |
ORPHA:1617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Joubert Syndrome 37 |
|
High palate, Cerebellar vermis hypoplasia, Joint hypermobility, Microphthalmia, Hypoplasia of the... |
OMIM:619185 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Long philtrum, Coloboma, Clinodactyly, Hip dislocation, Renal... |
OMIM:615583 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Coffin-Lowry Syndrome |
|
Coxa valga, Tapered finger, Pectus excavatum, Everted lower lip vermilion, Narrow palate, Hyperex... |
OMIM:303600 |
| Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Cutaneous syndactyly, ... |
ORPHA:166024 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal i... |
OMIM:615993 |
| Limb Body Wall Complex |
|
Thoracic hypoplasia, Abnormal thorax morphology, Broad hallux, Spina bifida occulta, Abnormal int... |
ORPHA:2369 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Postaxial hand polydactyly,... |
OMIM:615937 |
| Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Hydroce... |
ORPHA:85284 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Tapered finger, Renal dysplasia, Elbow flexion contracture, Intracerebral periventri... |
OMIM:608836 |
| Hydrolethalus Syndrome 1 |
|
Severe hydrocephalus, Preaxial hand polydactyly, Upper limb undergrowth, Abnormal cortical gyrati... |
OMIM:236680 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Postaxial h... |
OMIM:607361 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Dandy-Walker malformation |
ORPHA:1566 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Postaxial foot polydactyly, Syndactyly, Holoprosencephaly, Microphth... |
OMIM:619879 |
| Joubert Syndrome 10 |
|
Deep philtrum, Cerebellar vermis hypoplasia, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... |
OMIM:136760 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Elbow flexion contracture, Hip dislocation, Abnormality of the ureter, Aplasia of... |
OMIM:200980 |
| Holzgreve Syndrome |
|
Cleft upper lip, Renal agenesis, Hand polydactyly, Renal hypoplasia, Cleft palate |
OMIM:236110 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... |
ORPHA:2091 |
| Joubert Syndrome 20 |
|
Renal cyst, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Limitati... |
ORPHA:376 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Thin upper lip vermilion, Hypospadias, Downturned corners of mouth, Sandal gap, Sm... |
OMIM:615761 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Radioulnar synostosis, Pectus excavatum, Abnormal palate morphology... |
ORPHA:3270 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
| Cerebrooculonasal Syndrome |
|
High palate, Narrow palate, Anophthalmia, Long philtrum, Encephalocele, Hydrocephalus, Dandy-Walk... |
OMIM:605627 |
| Microhydranencephaly |
|
Hypoplasia of the brainstem, Multiple joint contractures, Cerebellar hypoplasia, Agenesis of corp... |
OMIM:605013 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Death in infancy, Renal dysplasia, Hydrocephalus, Hip dislocation, Po... |
OMIM:241800 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, High palate, Hip co... |
OMIM:619110 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Postaxial polydactyly, Hydronephrosis |
OMIM:615996 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Cerebellar vermis hypoplasia |
OMIM:614844 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Long philtrum, Wide mouth, Polycystic kidney dysplasia, Hip dislocation, Mi... |
OMIM:608776 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... |
OMIM:617967 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, High palate, Long philtrum, Macular hypoplasia, Anal atresia, Overlapping toe, Th... |
OMIM:613792 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Hypospadia... |
ORPHA:921 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Death in infancy, Cerebellar hypoplasia, Polycystic kidney dysplasia, Epiphyseal sti... |
OMIM:614866 |
| 3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Tapered finger, Deep philtrum, 2-3 finger syndactyly, Pyloric stenosis,... |
ORPHA:435638 |
| Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
| Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/H... |
ORPHA:971 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Polycystic kidney dysplasia, Camptodactyly, Metatar... |
OMIM:214110 |
| Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Dislocated radial head, Iri... |
OMIM:102500 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Multicystic kidney dysplasia, Death in in... |
ORPHA:1318 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Horizontal ribs, Lateral clavicle hook, Cleft palate, Narrow greater sciatic notch, ... |
OMIM:617925 |
| Retinal Capillary Malformation |
|
Hyphema, Vitreous hemorrhage |
ORPHA:71213 |
| Joubert Syndrome 36 |
|
Mesoaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:618763 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Hypospadias, Radioulnar synostosis, Coloboma |
OMIM:302905 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Flexion contracture, Elbow flexion contracture, Hip dislocation,... |
OMIM:210710 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Hypospadias, Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, H... |
OMIM:225790 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Occipital encephalocele, Postax... |
OMIM:619562 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Delayed eruption of teeth, Toe synda... |
OMIM:305600 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal lower lip morphology, Cerebral cortical atrophy, Renal hypoplasia... |
ORPHA:1166 |
| Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Renal agenesis, Hy... |
ORPHA:63259 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
| Arima Syndrome |
|
Renal tubular atrophy, Hypoplasia of the brainstem, Wide mouth, Stage 5 chronic kidney disease, R... |
OMIM:243910 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge, Cerebellar vermis hypoplasia, Broad hall... |
OMIM:617127 |
| Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Esophageal atresia, Hydrocephalus, Hypoplasia of penis, Tracheoes... |
ORPHA:77298 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Death in infancy, Postaxial foot polydactyly, Lateral ... |
OMIM:617405 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal long bone morphology, Hypoplastic ilia, Osteopenia, Small ... |
ORPHA:140976 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Hypoplasia of the pons, Microphthalmia, Cerebellar atrophy, Intrauterine g... |
OMIM:616171 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... |
OMIM:263200 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| 15q26 overgrowth syndrome |
|
Camptodactyly of finger, Vesicoureteral reflux, High palate, Tapered finger, Abnormal finger morp... |
DECIPHER:81 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
| Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... |
ORPHA:79106 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Increased bone miner... |
ORPHA:166119 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Renal dysplasia |
OMIM:615985 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Proximal tubulopathy, Abnormal cortical gyration, Death in infancy, Hip dyspla... |
OMIM:614576 |
| Aase-Smith Syndrome |
|
Camptodactyly of finger, Multiple joint contractures, Dandy-Walker malformation, Joint stiffness,... |
ORPHA:916 |
| Neu-Laxova Syndrome 1 |
|
Primary microcephaly, Toe syndactyly, Camptodactyly, Lissencephaly, Radial deviation of finger, C... |
OMIM:256520 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, R... |
OMIM:615986 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Perianal abscess, Small hand, Long philtrum, Wide mouth, Clinodactyly, P... |
OMIM:614684 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Hydroc... |
OMIM:615181 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Long philtrum, Deep philtrum, Bifid uvula, Abnormal oral frenulum morphology,... |
ORPHA:404440 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... |
ORPHA:380 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Broad thumb, Short finger, High palate |
OMIM:300209 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Posterior retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Polydactyly, Cavum septum pellucidum, Hydrocephalus, Joint laxity, Syndactyly, Mi... |
OMIM:602501 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Anophthalmia, Coloboma, Prominent median palatal raphe, Torus palatinus, Solitar... |
OMIM:147250 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Aqueductal stenosis, Esophageal atresia, Hypoplasia of the radius, Renal hypoplasia... |
ORPHA:3412 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:615771 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Bowing of the long bones |
OMIM:211890 |
| Phelan-Mcdermid Syndrome |
|
2-3 toe syndactyly, Vesicoureteral reflux, Dental malocclusion, High palate, Long philtrum, Abnor... |
OMIM:606232 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Short philtrum, Everted lower lip vermilion, Abnormal s... |
ORPHA:411986 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Small hand, Long philtrum, Abnormality of the dentition, Renal dysplasia, Hip dys... |
OMIM:300968 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... |
ORPHA:945 |
| Doors Syndrome |
|
Short 5th finger, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Abnormality of the u... |
ORPHA:79500 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Ulnar deviation of finger, Pectus excavatum, Hypospadias, Short distal phalanx of finger, Microce... |
ORPHA:2013 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Cleft upper lip, Multicystic kidney dysplasia |
ORPHA:3316 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Abnormally large globe, Thick corpus callosum, Hydrocephalus, Megalence... |
OMIM:603387 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Microdontia, Clinodactyly of the 5th toe, Clubbing of fing... |
ORPHA:221120 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Coloboma, Joint laxity, Optic nerve hypoplasia, Microphthalmia, Cleft palate, Micro... |
OMIM:610125 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Lissencephaly 8 |
|
Retrocerebellar cyst, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, Occipit... |
OMIM:617255 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Hallux valgus, Nephrotic sy... |
OMIM:618348 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal metaphysis morphology, Narrow... |
ORPHA:2635 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Long philtrum, Short ribs, Hypoplasia of ... |
OMIM:617895 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Mohr Syndrome |
|
Bifid tongue, Partial duplication of the phalanges of the hallux, Pectus excavatum, Median cleft ... |
OMIM:252100 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology, Rhombencephalosyna... |
ORPHA:280195 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short long bone, Short ribs, Thoracic dyspl... |
OMIM:615630 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, High palate, Ectopic anus, Wide mo... |
ORPHA:1703 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Narrow chest, Brachydactyly, Postaxial hand polydactyly, Short foot, Broad palm |
OMIM:611263 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Holoprosencephaly, Postax... |
OMIM:146510 |
| Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, Finger syndactyly, Pierre-Robin sequence, Tongue nodules, A... |
ORPHA:2886 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Syndactyly, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Molar tooth sign on MRI, Lymphedema, Clinodactyly, Epip... |
OMIM:607131 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Coloboma, Microphthalmia, Cleft palate, Deep palmar crease |
OMIM:600251 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Coloboma, Tetraphocomelia, Elbow flexion contracture, Lo... |
OMIM:268300 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Multicystic kidney dysplasia, Pierre-Robin sequence, Small hand, Agenesis of c... |
OMIM:619980 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Thoracic scoliosis, Joint contracture of the hand, Oligodontia, Clinodactyly, Brachy... |
OMIM:600325 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hip dysplasia, Clinodactyly of the 5th fi... |
ORPHA:3375 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, High palate, Aplasia/Hypopl... |
OMIM:157900 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Mpdu1-Cdg |
|
Thin vermilion border, Renal cortical cysts |
ORPHA:79323 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Long philtrum, Clinodactyly of the 5th finger, Joint laxity, Broad t... |
OMIM:619721 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Bifid uvula, Hip dislocation, Overlapping ... |
ORPHA:672 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... |
OMIM:175700 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney, Secondary microc... |
OMIM:613730 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint... |
ORPHA:2725 |
| Hartsfield Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosen... |
ORPHA:2117 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Multiple joint contractures, Abnormal foot bone ossification,... |
OMIM:300244 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Triphalangeal thumb, Short 5th finger, High palate, Long philtrum, Increased urine alpha-ketoglut... |
OMIM:220500 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Micropht... |
OMIM:613155 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Hypoplasia of t... |
OMIM:615287 |
| Holoprosencephaly |
|
Spinal dysraphism, Median cleft lip, Holoprosencephaly, Iris coloboma, Tooth agenesis, Cyclopia, ... |
ORPHA:2162 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Elbow di... |
ORPHA:2631 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Elbow dislocation, Sh... |
ORPHA:90652 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... |
OMIM:618061 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Bifid uvula, Pectus excavatum, Overlapping toe, Cleft palate, Deep palm... |
OMIM:616580 |
| Distal Monosomy 12Q |
|
2-3 toe syndactyly, Elbow flexion contracture, Median cleft lip, Overlapping toe, Broad hallux, S... |
ORPHA:96149 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Duplication of phalanx of hallux, Syndactyly, Renal cyst, Stillbirth, ... |
OMIM:263630 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate |
OMIM:120433 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Horizontal ribs, Thoracic dysplasia, Early ossification of capital femor... |
OMIM:208500 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Nephrotic syndrome, Stage 5... |
OMIM:616730 |
| Joubert Syndrome 32 |
|
Postaxial hand polydactyly, Molar tooth sign on MRI, Abnormal cerebellum morphology, Postaxial fo... |
OMIM:617757 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Dental malocclusion, High p... |
OMIM:612350 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo... |
OMIM:225500 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Abnormal cortical gyrati... |
OMIM:610829 |
| Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly, Cerebellar vermis hypoplasia |
OMIM:614845 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Radioulnar dislocation, High palate, Hypoplastic ilia, Abn... |
ORPHA:93359 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
| Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of t... |
ORPHA:96176 |
| Triploidy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of t... |
ORPHA:3376 |
| Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... |
OMIM:243605 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Postaxial hand polydactyly, Superior cerebellar dysplasia, Cerebellar at... |
OMIM:617622 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... |
ORPHA:93320 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Anencephaly, Renal agenesis, Hydrocephalus, Hypospadias, Cleft palate |
OMIM:313850 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Long philtrum, Pectus excavatum, Thin upper lip verm... |
OMIM:618548 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Genu valgum, Short philtrum, Long thorax, Diastema, Accessory oral frenulum, Posta... |
OMIM:619142 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar cyst, Hydroc... |
OMIM:613153 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... |
OMIM:605967 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Small hand, Long philtrum, Microphallus, Thick lower lip vermilion, Coloboma, C... |
ORPHA:94065 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, High palate, Long philtrum, Cerebral cortical atrophy, Abnormal... |
OMIM:617527 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... |
OMIM:607323 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Abnormal thorax morphology, Cleft palate, Talipes equinovarus, Abnormal dental ename... |
ORPHA:567 |
| Ulbright-Hodes Syndrome |
|
Short sternum, High palate, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, ... |
ORPHA:3404 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Long philtrum, Deep philtrum, Cerebellar hypoplasia, Hydroureter, Hypoplasia of the ... |
OMIM:615398 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Cerebral cortical atrophy, Coloboma, Toe syndactyly, Bifid uvula, Cleft palate, Lamb... |
OMIM:607932 |
| Weyers Acrofacial Dysostosis |
|
Conical tooth, Clinodactyly of the 5th finger, Postaxial foot polydactyly, Solitary median maxill... |
OMIM:193530 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Encephalocele, Coloboma, Wide mouth, Stage 5 chronic kidney... |
OMIM:216360 |
| Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Elbow flexion contracture, Posterior rib gap, Cleft palat... |
OMIM:117650 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Abnormal metacarpal morphology, Pectus excavatum, Cleft palate, Pectus carinatum, ... |
ORPHA:166100 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Cleft upper lip, Recurrent urinary tract infections, Clinodactyly of the 5... |
OMIM:244600 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Coloboma, Short ... |
OMIM:601357 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts, Colonic diverticula |
OMIM:173900 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad metacarpals, Mi... |
OMIM:618724 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To... |
ORPHA:352665 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Joint hyperflexibility, Microcephaly, Bi... |
ORPHA:3033 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Coxa valga, Abnormality of the elbow, Abnormal bone ossification, Thoracic kyphosis,... |
ORPHA:163649 |
| Trichohepatoenteric Syndrome 1 |
|
Avascular necrosis of the capital femoral epiphysis, Villous atrophy, Long philtrum, Wide mouth, ... |
OMIM:222470 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Macular coloboma, Contracture of the distal... |
OMIM:216800 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thora... |
OMIM:269250 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Tapered finger, Hallux valgus, Coloboma, Pectus excavatum, Broad hallux, Smoo... |
OMIM:618659 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Sagittal craniosynostosis, Widely spaced teeth, Stage 5 chronic kidney diseas... |
OMIM:614099 |
| Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Microdontia, Dislocated radial head, Celiac disease, Avascul... |
ORPHA:2044 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs, Hydrocephalus, Anal atresia, A... |
ORPHA:3301 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
| Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe... |
OMIM:216340 |
| Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis... |
OMIM:114300 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Narrow mouth, Split hand, Renal hypoplasia, Cleft palate |
OMIM:246560 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Cerebellar hypoplasia, Rena... |
OMIM:264480 |
| Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida o... |
OMIM:201000 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Harrod Syndrome |
|
Dental malocclusion, Multicystic kidney dysplasia, High palate, Cerebral cortical atrophy, Abnorm... |
ORPHA:2115 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Finger syndactyly, Long philtrum, Abnormal cortical gyrat... |
ORPHA:2211 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, High palate, Bifid tongue, Myelomeningocele, Bone... |
ORPHA:1752 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis, Premature ost... |
ORPHA:93307 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Death in infancy, Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abn... |
OMIM:256050 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Aganglionic megacolon, Hydroureter, Polycystic kidney dysplasia, Anal atre... |
OMIM:236700 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormal morphology of the radius, Median cleft lip, Holoprosencephaly, Microce... |
ORPHA:2165 |
| Non-Distal Trisomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, High palate, Long philtrum, Narrow chest, Everted lower lip... |
ORPHA:1702 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Narrow mouth, Megalencephaly, Abnormal localization of kidney, Postaxial hand poly... |
ORPHA:83473 |
| Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:608091 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
| Cofs Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Microphthalmia, Intrauterine growt... |
ORPHA:1466 |
| Charge Syndrome |
|
Coloboma, Holoprosencephaly, Iris coloboma, Abnormal rib morphology, Bilateral talipes equinovaru... |
OMIM:214800 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Bell-shaped thorax, Thoracic hypoplasia, Delaye... |
OMIM:608022 |
| Frontometaphyseal Dysplasia |
|
Short diaphyses, Wrist flexion contracture, Short phalanx of finger, Camptodactyly of finger, Elb... |
ORPHA:1826 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Abnormalit... |
ORPHA:3098 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aplasia/Hypoplasia of the corpus callosum, Aqueductal stenosis, Humero... |
OMIM:251230 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... |
OMIM:300166 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Short metatarsal, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular... |
ORPHA:1856 |
| Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Horizontal ribs, Abnormally large globe, Short tubular bones of the hand,... |
OMIM:200610 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot polydactyly, R... |
OMIM:615994 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Anophthalmia, Short foot, Short 5th metacarpal, Toe syndactyly, Finger synd... |
ORPHA:264200 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Renal cyst, Chorioreti... |
ORPHA:2031 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... |
ORPHA:163966 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Pectus excavatum, Iris coloboma, Radial deviation of finger, Optic disc coloboma, ... |
OMIM:309800 |
| Otopalatodigital Syndrome, Type I |
|
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... |
OMIM:311300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Long philtrum, Aniridia, Ulnar deviation of finger, Pectus... |
ORPHA:1101 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, Hydrocephalus, Hypospadias, Downturned corne... |
ORPHA:2075 |
| Fraser Syndrome |
|
Bifid tongue, Ectopic anus, Toe syndactyly, Orofacial cleft, Multicystic kidney dysplasia, Anopht... |
ORPHA:2052 |
| Tetraploidy |
|
Aplasia/Hypoplasia affecting the eye, Radial club hand, Renal hypoplasia/aplasia, Short philtrum,... |
ORPHA:3305 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Iris coloboma, Cleft palate, Genu valgum, Flexion ... |
ORPHA:2712 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Agenesis of corpus callosum, Olivopontocerebellar hypoplasia, Clinodactyly of the ... |
ORPHA:457284 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Fused cervical vertebrae, Abnormality ... |
ORPHA:3320 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Metatarsus adductus, Pectus excavatum, Short... |
OMIM:212720 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... |
OMIM:609945 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Bifid uvula, Submucous cleft hard palate, Hypoplasia of penis, Failure of eruption ... |
ORPHA:2250 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Preaxial hand polydactyly, High palate, Multicystic kidney dysplasia, Uppe... |
ORPHA:1297 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... |
OMIM:186500 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebellar vermis h... |
ORPHA:1532 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anophthalmia, Coloboma, Esophageal atresia, Supernumerary ribs, Missing ribs, O... |
OMIM:206900 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Iris coloboma,... |
OMIM:109400 |
| Acro-Renal-Ocular Syndrome |
|
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Iris coloboma, Optic d... |
ORPHA:959 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior rib cupping, C... |
OMIM:184250 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Abnormal vertebral segmentati... |
ORPHA:2345 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Coloboma, Toe syndactyly, Bifid uvula, Abnormal oral... |
OMIM:200990 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Sagittal craniosynostosis, Long philtrum, Polycystic kidney dysplasia, Renal cy... |
OMIM:610199 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Split foot, Microphthalmia, Widely-spaced maxillary central incisors, Microcepha... |
OMIM:601349 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Joubert Syndrome 21 |
|
Bell-shaped thorax, Hypoplasia of the brainstem, Anophthalmia, Renal cyst, Hypoplasia of the corp... |
OMIM:615636 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Cleft palate, Hypospadias, Cleft upper lip |
OMIM:231060 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,... |
OMIM:227270 |
| Charge Syndrome |
|
Delayed eruption of teeth, Abnormal soft palate morphology, Holoprosencephaly, Iris coloboma, Abn... |
ORPHA:138 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal morphology of the radius, Microphthalmia |
ORPHA:3469 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Renal dysplasia, Microdontia, Bifid uvula, Reduced ... |
OMIM:266920 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Upper limb asymmetry, Iris coloboma, Tooth agenesis, Abn... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Short ribs, Thoracic dysplasia, Femoral bowing, Syndactyly, Preaxial polydactyly... |
OMIM:615503 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Short long bone, Camptodactyly, Stillbirth, Death in adolescence, Neonatal d... |
OMIM:619751 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki... |
OMIM:208540 |
| Enlarged Parietal Foramina |
|
Encephalomalacia, Myelomeningocele, Broad thumb, Cleft lip, Short clavicles, Cleft palate, Occipi... |
ORPHA:60015 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal thorax morphology, Epiphyseal stippling, Dandy-Walker malformation, Abnormal pelvic gird... |
OMIM:302960 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... |
OMIM:609583 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, Long philtrum, Coloboma, Hypospadias, Microphthalmia, 3-4 finge... |
OMIM:615877 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... |
OMIM:618950 |
| Bardet-Biedl Syndrome 1 |
|
High palate, Foot polydactyly, Aganglionic megacolon, Hypodontia, Abnormality of the kidney, Post... |
OMIM:209900 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
| Orofaciodigital Syndrome Type 3 |
|
Short sternum, Lobulated tongue, Irregular dentition, Stage 5 chronic kidney disease, Thoracic ky... |
ORPHA:2752 |
| Seckel Syndrome 1 |
|
Abnormally large globe, Selective tooth agenesis, Elbow flexion contracture, Hip dislocation, Dis... |
OMIM:210600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Cervical ribs, Phocomelia, La... |
OMIM:274000 |
| Fraser Syndrome 1 |
|
Abnormality of the anus, Cleft palate, Anophthalmia, Abnormal cortical gyration, Hydrocephalus, A... |
OMIM:219000 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Renal insufficiency, Microdontia, Abnormal metacarp... |
ORPHA:1307 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Cerebral cortical atrophy, Renal hypoplasia/aplasia, Missing r... |
ORPHA:1834 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Dental crowding, Microcephaly,... |
OMIM:180870 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Triceps aplasia, Pectus excavatum, Absent distal interphalangeal creases, Glomeru... |
OMIM:161200 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Recurrent urinary tract infe... |
ORPHA:2438 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Flared metaphysis, Wide-cupped costochond... |
OMIM:187601 |
| Marden-Walker Syndrome |
|
Camptodactyly, Cleft palate, Talipes equinovarus, Hypoplasia of the brainstem, Narrow mouth, Micr... |
OMIM:248700 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Uraciluria, Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Abnormal renal morphology, Postaxial polydactyly |
OMIM:614615 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed eruption of teeth, Sclerotic scapulae, Sclerosis of skull base, Short st... |
OMIM:224300 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Orofaciodigital Syndrome Type 1 |
|
Lip pit, Median cleft lip, Postaxial hand polydactyly, Cleft palate, Odontogenic neoplasm, Reduce... |
ORPHA:2750 |
| Pierpont Syndrome |
|
Short toe, Chiari malformation, Short finger, Excessive wrinkling of palmar skin, Microphthalmia,... |
ORPHA:487825 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
| Pierpont Syndrome |
|
Short toe, Chiari malformation, Short foot, Short finger, Microphthalmia, Deep palmar crease, Sho... |
OMIM:602342 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the corpus callosum, Abnorm... |
ORPHA:2167 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Agenesis of corpus callosum, Clinodactyly, Iris coloboma, Tooth agenesis, Osteop... |
OMIM:147950 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Bifid uvula, Metatarsus adductus, Pectus excavatum, Abn... |
ORPHA:2461 |
| Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Flexion contracture, Anophthalmia, Delayed eruption of primary teeth, Subcorti... |
ORPHA:90322 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Slender long bone, Decreased calvarial ossification, Brachydactyly, Cleft ... |
OMIM:618265 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Finger syndactyly, Ectopic a... |
ORPHA:2473 |
| Fryns Syndrome |
|
Non-midline cleft lip, Cerebral cortical atrophy, Ectopic anus, Median cleft lip, Cleft palate, V... |
ORPHA:2059 |
| Joubert Syndrome 15 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:614464 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding |
ORPHA:231140 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of toe, Clin... |
ORPHA:3082 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Pectus... |
OMIM:312870 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Clinodactyly, Cerebellar vermis hypoplasia, Renal cyst, Buphthalmos, Trian... |
OMIM:618460 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Elbow flexion contracture, Dislocated radial head,... |
OMIM:122470 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia, Downturned corners of mout... |
ORPHA:531151 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
| Teebi-Shaltout Syndrome |
|
Camptodactyly, Metatarsus adductus, Pectus excavatum, Smooth philtrum, Cleft palate, Rocker botto... |
OMIM:272950 |
| Ritscher-Schinzel Syndrome 1 |
|
Coloboma, Missing ribs, Hydrocephalus, Anal atresia, Syndactyly, Hypospadias, Cleft palate, Dandy... |
OMIM:220210 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia, Finger syndactyly, Long philtrum, Toe syndactyly,... |
ORPHA:73246 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Short long bone, Short femur,... |
ORPHA:1190 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... |
OMIM:305620 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Camptodactyly, Pectus excavatum, Spina bifida occulta, Thoracolumbar kyphosis, Cleft... |
OMIM:300373 |
| Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Spina bifida occulta, Abnor... |
ORPHA:1452 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Cerebellar hypoplasia, Mu... |
OMIM:616897 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metatarsal, Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioul... |
OMIM:605282 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Distal tapering femur, Elbow dislocation, Short femur, Cleft palate, Talipes... |
OMIM:108720 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, A... |
ORPHA:59315 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Metaphyseal cupping of proximal phala... |
OMIM:300863 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Hypoplasia of penis, Split hand, Microcephaly... |
ORPHA:2491 |
| Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip, Micropenis, Postaxial polydactyly |
OMIM:615849 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Crane-Heise Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1512 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Renal dysplasia, Overlapping toe, Abnormal periodontium morphology... |
ORPHA:480880 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Cleft palate, Short palm, Narrow g... |
OMIM:228520 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Optic nerve hypop... |
OMIM:607597 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebellar hypoplasia, Renal hypoplasia... |
ORPHA:2166 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, Scapular winging, 3-Methylglutari... |
ORPHA:26791 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Retinal coloboma, Toe syndactyly, Camptodactyly, Hand polydactyly, Medi... |
OMIM:258865 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Short 3rd metaca... |
OMIM:169400 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Elbow dislocation, Pectus ex... |
ORPHA:1507 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Short long bone, Short ribs, Narrow chest, Hypodontia, Aplasia of the epiglottis... |
OMIM:617088 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Death in infancy, Hydrocephalus, Dandy-Walker malformation, Slender finger, ... |
OMIM:147800 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Aganglionic megacolon, Renal agenesis, Postaxial hand polydactyly |
ORPHA:2155 |
| Apert Syndrome |
|
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Megalencephaly, Po... |
OMIM:101200 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Enamel hypoplasia, High palate, Abnormal cortical gyration, Selective tooth age... |
OMIM:613823 |
| Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Cerebellar hypoplasia, Hydrocephalus, Oligohydramnios, Single transverse pa... |
OMIM:614219 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Clinodactyly of the 5th finger, Short philtrum, Thin upper lip vermil... |
OMIM:301022 |
| Joubert Syndrome 27 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:617120 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis, Cleft lip, Cleft palate, Micropenis |
OMIM:614838 |
| Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Anophthalmia, Duodenal stenosis, Microphthalmia, Horseshoe kidney, Renal h... |
ORPHA:2470 |
| Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Microdontia, Everted lower lip vermilion, Abnormality of t... |
ORPHA:261318 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Acrocallosal Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:36 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Wide mouth, Clinodactyly, Microphthalmia, Microcephaly, Cleft palate |
OMIM:619981 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... |
ORPHA:464321 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Vesicoureteral reflux, Aplasia/Hypoplasia affecting the eye, Preaxial hand p... |
ORPHA:2549 |
| Bardet-Biedl Syndrome 21 |
|
Hypodontia, Hypoplasia of the fovea, Horseshoe kidney, Postaxial hand polydactyly, Abnormality of... |
OMIM:617406 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Small hand, Advanced eruption of teeth, Hypodontia, Clinodactyly of the 5th finger... |
ORPHA:952 |
| Joubert Syndrome 24 |
|
Cerebellar hypoplasia, Postaxial foot polydactyly, Pachygyria, Postaxial hand polydactyly, Talipe... |
OMIM:616654 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Renal dysplasia, Hip dislocation, Elbow dislocation, Cleft palate, Deep ... |
ORPHA:99776 |
| Joubert Syndrome 33 |
|
Syndactyly, Molar tooth sign on MRI |
OMIM:617767 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia |
ORPHA:3032 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Short foot, Short metacarpal, Finger syndactyly, To... |
ORPHA:1001 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short long b... |
OMIM:224400 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Hepatic cysts, Short long bone, Stage 5 chronic kidney disease, Brachydactyly, Narro... |
OMIM:613819 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Spinal dysraphism, Thoracic hypoplasia, Hallux valg... |
OMIM:114290 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
| Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Retinal coloboma, Clinod... |
OMIM:244300 |
| Proboscis Lateralis |
|
Ureteral agenesis, High palate, Anophthalmia, Long philtrum, Unilateral renal agenesis, Agenesis ... |
ORPHA:141099 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Osteoarthritis, Bifid u... |
ORPHA:1427 |
| Congenital Toxoplasmosis |
|
Ascites, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:858 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia, Polyh... |
ORPHA:2547 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
| Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Short metacar... |
OMIM:615222 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Cortical tubers, Renal angiomyolipoma |
OMIM:600273 |
| Ogden Syndrome |
|
Metatarsus valgus, Thick upper lip vermilion, Everted upper lip vermilion, Pectus excavatum, Broa... |
OMIM:300855 |
| Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Short phalanx of finger, Short metacarpal, Hypoplasia of the iris, Cerebral hypoplasia, Abnormal ... |
ORPHA:1422 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Postaxial hand p... |
OMIM:304120 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Vertebral fusion, Coxa vara, Capitate-hamate fusion, Short metacarpal, Block v... |
OMIM:272460 |
| Raine Syndrome |
|
Thoracic hypoplasia, Increased bone mineral density, Microdontia, Pectus excavatum, Cleft palate,... |
OMIM:259775 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Finger joint hypermobility, Unilateral renal agenesis, Pectus excavatum, Cleft p... |
OMIM:244200 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Narrow chest, Hypoplas... |
ORPHA:85166 |
| Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Clinodactyly, Macroglossia, Postaxial foot polydactyly, Renal cyst, ... |
OMIM:213300 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Narrow mouth, Brachydactyly |
OMIM:132450 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Patellar hypoplasia, Long philtrum, Coloboma, Thick corpus callosum, Thin ... |
ORPHA:464288 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Pectus excavatum, Talipes equinovarus, Narrow palate, Carious teeth, Umbilical her... |
OMIM:614976 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Subconjun... |
ORPHA:464329 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Thick upper lip vermilion, Flexion contracture, Thoracic hypoplasia, Pec... |
OMIM:611717 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... |
ORPHA:2756 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Enlarged kidney, Macroglossia, Nephr... |
OMIM:130650 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Cerebellar hypoplasia, Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:600118 |
| Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Pectus carinatum, Ectopic anus, Abnormal finger morphology, Aplasia of t... |
ORPHA:3138 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Patellar aplasia, Coxa vara, Patellar hypoplasia, Flat capital femoral epiphysis, Sh... |
OMIM:147891 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Primary microcephaly, Hip dislocation, Cervical ribs, Dislocated radial ... |
OMIM:619297 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, High palate, Avascular necrosis of the capital femoral epiphysis, Short ... |
ORPHA:77258 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypospadias, Microcephaly, Hypoplastic ischia |
OMIM:616910 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Esophageal atresia, Enlarged kidney, Hydrocephalus, Hand polydactyly, Anal atre... |
OMIM:314390 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Stage 5 chronic kidney disease, Hypoplasia of the femo... |
OMIM:616629 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Coloboma, Microdontia, Broad hallux, Slender finger, Bilater... |
ORPHA:251028 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Coloboma, Toe syndactyly, Eve... |
ORPHA:251014 |
| Momo Syndrome |
|
Short sternum, Thick upper lip vermilion, Dental malocclusion, High palate, Abnormal bone ossific... |
ORPHA:2563 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Genu valgum, Osteoporosis, Osteopenia, Cleft palate, Micropenis |
OMIM:614880 |
| Microphthalmia, Isolated 5 |
|
Cystoid macular edema, Microphthalmia |
OMIM:611040 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Tubulonodular pericallosal lipoma, Patellar hypoplasia... |
OMIM:603671 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Ectopic kidney, Narrow mouth, Microcephaly... |
OMIM:239800 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Metaphyseal irregularity, Spinal dysraphism, Delaye... |
OMIM:603546 |
| Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Foot joint contracture, Anophthalmia, Delayed eruption of primary teeth, Anodo... |
ORPHA:90321 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermobi... |
OMIM:602196 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Cerebral cortical atrophy, High palate, Everted l... |
ORPHA:1784 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Radioulnar synostos... |
OMIM:194350 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Weakness of long finger extensor muscles, Osteopenia |
ORPHA:35125 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Microphallus, Clinodactyly of the 5th finger, Small placenta, Synd... |
ORPHA:397590 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Occipital meningocel... |
OMIM:601707 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Short long bone, Short ribs, Hyd... |
OMIM:187600 |
| Pfeiffer Syndrome Type 3 |
|
Hallux varus, Vesicoureteral reflux, High palate, Finger syndactyly, Small hand, Aqueductal steno... |
ORPHA:93260 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... |
OMIM:600920 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Joint contracture of the hand, Cerebellar hypoplasia, Elbow flexion contracture, Camp... |
OMIM:214150 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Short thorax, Finger syndactyly, Long philtrum, Rib segment... |
ORPHA:2311 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, Aplasia/Hypoplasia of the corpus callosum, High palate, Tongue nodules, Foot po... |
ORPHA:2754 |
| Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Genu valgum, Tapered finger, Coxa valga, Short 1st metacarpal, Advanced erup... |
ORPHA:949 |
| Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Clinodactyly of the 5th toe, Scapular winging, Cleft pal... |
OMIM:170390 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Coloboma, Hip dislocation, Optic nerve hypoplasia, Overlapp... |
ORPHA:508498 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Renal hypoplasia/aplasia, Bilateral single tr... |
ORPHA:1770 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Cerebellar hypoplasia, Flexion contracture of... |
OMIM:610758 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Stil... |
OMIM:119800 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, Epistaxi... |
ORPHA:340 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon |
OMIM:611773 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Camptodactyly, Cleft palate, Gingival overgrowth, Calvarial osteosclerosis, Pa... |
OMIM:616331 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Anal atresia, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney, Mi... |
OMIM:619318 |
| Cardioacrofacial Dysplasia 2 |
|
Conical tooth, Genu valgum, Deep philtrum, Narrow chest, Hypodontia, Clinodactyly of the 5th fing... |
OMIM:619143 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Coloboma, Wide mouth, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Diastema, Pectus exc... |
ORPHA:329224 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Polyhydramnios, Microphthalmia, Finger syndactyly |
ORPHA:261272 |
| Branchiooculofacial Syndrome |
|
Elbow flexion contracture, Iris coloboma, Cleft palate, Fusion of middle ear ossicles, Branchial ... |
OMIM:113620 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Myocarditis, Purpura, Ecchymosis, Shock, Excessive bleeding after a venipuncture, Su... |
ORPHA:319213 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Coloboma, Joint contracture of the hand, Recurrent urinary tract infection... |
OMIM:611961 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Pierre-Robin sequence, Large ... |
OMIM:215150 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Cerebe... |
ORPHA:2318 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Nephroblastoma, Multicystic kidney dysplasia, Long philtrum, Cerebellar hypoplasia... |
OMIM:257300 |
| Joubert Syndrome 23 |
|
Polydactyly, Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Hip osteoarthritis |
OMIM:170700 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Hypoplastic ilia, Patell... |
ORPHA:85201 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Hypoplasia of the radius... |
ORPHA:3015 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Hypoplastic pubic bone, Hypoplastic ilia, Encephalocele, Short long bone, Sh... |
ORPHA:1865 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Coxa valga, Optic nerve hypoplasia, Postaxial hand polydactyly, Deep palmar... |
OMIM:301056 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Hypospadias, Iris coloboma, Microcephaly, Pachygyria, H... |
ORPHA:66629 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Short toe, Upper limb undergrowth, Long philtrum, Short metacarpal, Broa... |
ORPHA:439822 |
| Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Midline brain calcifications, Joint contracture of the ha... |
OMIM:247200 |
| Eales Disease |
|
Vitreous hemorrhage, Ischemic stroke, Transient ischemic attack, Peripheral retinal neovasculariz... |
ORPHA:40923 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, C... |
ORPHA:2237 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti... |
OMIM:151200 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Adducted thumb, Hypospadias, Neonatal death, Death in childhood, Arthrogryposis... |
OMIM:619334 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Cerebellar vermis hypoplasia, S... |
OMIM:618161 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Polymicrogyria, Cerebellar... |
ORPHA:220497 |
| Frontorhiny |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Bifid tongue, Cranium bifidum... |
ORPHA:391474 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Radioulnar synostosis, Cere... |
ORPHA:436003 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebral cortical atrophy, 2-3 toe cutaneous syndactyly, Smooth philtrum, Cleft palate, Optic dis... |
OMIM:618454 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Broad distal phalanx of the toes, Overlapping toe, Everted lower lip vermilio... |
ORPHA:464738 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... |
ORPHA:93267 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Short long bon... |
OMIM:619184 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Abnormal vertebral segmentation and fusion,... |
OMIM:118100 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Hydronephrosis, Tracheobronchomalacia, Recurrent fractures, Short long bone, Hy... |
ORPHA:140 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Renal cyst, Horseshoe kidney, Metaphyseal chondrodysplasia, Brachydactyly, Shor... |
OMIM:250410 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
| Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split foot, Split hand |
OMIM:225290 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, High palate, Tapered finger, Clinodactyly of the 5th finger, Thin v... |
OMIM:618829 |
| Orofaciodigital Syndrome Xix |
|
Lobulated tongue, High palate, Narrow palate, Cleft soft palate, Tongue nodules, Toe syndactyly, ... |
OMIM:620107 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Sprengel... |
OMIM:601076 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle ... |
ORPHA:3429 |
| D-Bifunctional Protein Deficiency |
|
High palate, Thoracic hypoplasia, Long philtrum, Cerebral hypoplasia, Cerebral dysmyelination, Pe... |
OMIM:261515 |
| Xylt1-Cdg |
|
Coxa valga, Short femoral neck, Long philtrum, Short long bone, Clinodactyly, Joint laxity, Flare... |
ORPHA:370930 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Renal agenesis, Radioulnar syn... |
OMIM:614900 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cerebral cortical atrophy, Renal tubular acidosis, Death in infancy, Renal dysplasia, Tongue fasc... |
OMIM:614922 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Coxa vara, Short femoral neck, Long philtrum, Velopharyngeal insufficiency, S... |
OMIM:614701 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Thoracic s... |
OMIM:619636 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Long philtrum, Narrow chest, Elbow ankylosis, Narro... |
ORPHA:83 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... |
OMIM:610688 |
| Exudative Vitreoretinopathy 1 |
|
Retinal neovascularization, Vitreous hemorrhage |
OMIM:133780 |
| Nager Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Hypoplas... |
ORPHA:245 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Flexion contracture, High palate, Acroosteolysis of distal phalanges (fe... |
OMIM:608612 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Cerebellar hypoplasia |
OMIM:606744 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin... |
ORPHA:1358 |
| 2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Enlarged thorax, Multicystic kidney dysplasia, High palate, Tapered fing... |
ORPHA:261349 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Short femur, Femoral bowing, Metaphyseal widening, Brachydactyly, Narr... |
ORPHA:440354 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Bell-shaped thorax, Short metacarpal, Hypoplasia of the iris, Thin corpu... |
OMIM:600092 |
| Septooptic Dysplasia |
|
Polydactyly, Optic disc hypoplasia, Short finger, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Hip dislo... |
OMIM:309350 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Osteop... |
ORPHA:2658 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Retinal coloboma, Stage 5 chronic kidney dis... |
OMIM:120330 |
| Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate, Optic di... |
OMIM:615948 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Baraitser-Winter Syndrome 2 |
|
Long philtrum, Wide mouth, Coloboma, Lissencephaly, Thin upper lip vermilion, Secondary microceph... |
OMIM:614583 |
| Hajdu-Cheney Syndrome |
|
Osteolysis, Iris coloboma, Thin vermilion border, Cleft palate, Short toe, Recurrent fractures, P... |
ORPHA:955 |
| Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Hand clenching, Cerebellar dysplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:617822 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Vesicoureteral reflux, Genu valgum, Multicystic kidney dysplasia, Cleft ... |
OMIM:164210 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cerebral cortical atrophy, Hallux valgus, Short metacarpal, Renal cyst, Horseshoe kidney, Metaphy... |
ORPHA:166035 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Cleft lower alveolar rid... |
OMIM:268305 |
| Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Synostosis of joints, ... |
ORPHA:1234 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Cerebe... |
ORPHA:220493 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Microdontia, Camptodactyly, Elbow dislocation, Absent sternal os... |
OMIM:224690 |
| 3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Iris coloboma, Mi... |
ORPHA:251038 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:251270 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hemimegalencephaly, Recurrent fractures, Abnormal finger morphology, Coloboma, Hyperphosphaturia,... |
OMIM:163200 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Thoracic hypoplasia, Anterior rib cupping, Short metacarpal, Radial bowing, Flat... |
OMIM:211350 |
| Gracile Bone Dysplasia |
|
Slender long bone, Hydrocephalus, Flared metaphysis, Microphthalmia, Brachydactyly, Ascites, Anir... |
OMIM:602361 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Oligohydramnios, Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growt... |
ORPHA:228390 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Nephroblastoma, Long philtrum, Dela... |
ORPHA:77301 |
| Kabuki Syndrome |
|
Lip pit, Short 5th finger, Cerebral cortical atrophy, Coloboma, Microdontia, Hip dislocation, Cle... |
ORPHA:2322 |
| Distal Trisomy 17Q |
|
Vesicoureteral reflux, Genu valgum, Renal duplication, High palate, Hallux valgus, Wide mouth, Ce... |
ORPHA:3379 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Dental malocclusion, Short metacarpal, Delayed eruption of teeth, Hypodo... |
OMIM:101800 |
| Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the cor... |
ORPHA:1454 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, 2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th fin... |
OMIM:618914 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Focal lissencephaly, Irregular tarsal bones, Narrow g... |
OMIM:250220 |
| Pfeiffer Syndrome Type 2 |
|
Hallux varus, High palate, Finger syndactyly, Small hand, Aqueductal stenosis, Toe syndactyly, Hy... |
ORPHA:93259 |
| Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Bifid tongue, Hip dislocation, Holoprosencephaly, Iris coloboma, Tooth agenes... |
ORPHA:818 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Microdontia, Pulp calc... |
OMIM:606895 |
| Congenital Myopathy 17 |
|
Hand clenching, Distal arthrogryposis, Dental malocclusion, High palate, Tapered finger, Long phi... |
OMIM:618975 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cubitus valgus, Camptodactyly, Microphthalmia, Down-sloping shoulders |
OMIM:619694 |
| Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Encephalocele, Finger syndactyly, Abnormal metacarpal morphology, ... |
ORPHA:974 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Microp... |
OMIM:615249 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate, Coloboma, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Pectus ... |
OMIM:606851 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Increased susceptibility to fractures, Eruption failure, High palate, Sh... |
OMIM:166250 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Microcephaly, Smooth phil... |
ORPHA:313781 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Hypospadias, Br... |
OMIM:614613 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Abnormal sternum morphology, Eosinophilic infiltration of the esophagus, Joi... |
OMIM:610168 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, High palate, Coloboma, Hip dysplasia, Broad alveolar ridges, Clinodactyly ... |
OMIM:616975 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Hypoplasia of the frontal lobes, Global brain atrophy, Bifid... |
OMIM:270400 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Lathosterolosis |
|
Meningocele, High palate, Long philtrum, Toe syndactyly, Hypoplasia of penis, Cerebral calcificat... |
ORPHA:46059 |
| Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Joint hyperflexibility, Ren... |
ORPHA:1475 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, High palate, Death in infancy, Malabsorption, Pyloric stenosis, Epi... |
ORPHA:912 |
| Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Abnormal thorax morphology, Camptodactyly, ... |
ORPHA:798 |
| Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage |
OMIM:193220 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Abnormally large globe, Camptodactyly, Metatarsus adductus, Pectus excav... |
OMIM:249420 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hypodontia, Abnormality of the upper urinary tract, Clinodactyly of the 5th fin... |
ORPHA:2916 |
| Kleefstra Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Tracheomalacia, Everted lower lip vermilion... |
ORPHA:261494 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Global brain atrophy, Upper limb undergrowth, Congenital megaureter, Long philtrum, Renal dysplas... |
ORPHA:369837 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Ta... |
OMIM:609638 |
| Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Knee flexion contracture, Dental malocclusion, High palate, C... |
ORPHA:2920 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease |
OMIM:617056 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Epiphyseal stippling, Death in infancy |
OMIM:614862 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Postaxial hand polydactyly, Cleft pala... |
ORPHA:373 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Stage 5 chronic kidney disease, Glomerular subepith... |
OMIM:616307 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology |
ORPHA:206448 |
| C Syndrome |
|
Abnormality of the anus, Toe syndactyly, Pectus excavatum, Dislocated radial head, Smooth philtru... |
ORPHA:1308 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Micropenis |
OMIM:245800 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... |
OMIM:619306 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts, Lissencephaly, Polymicrogyria |
OMIM:614883 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hip dysplasia, Oligohydramnios, Overlapping toe, Microphthalmia, Overlapping fingers, Increased n... |
OMIM:618494 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Subconjunctival hemorrhage, Hematochezia, Vasculitis in the skin, Vasculitis |
OMIM:617718 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap, Intrauterine growth retardation |
ORPHA:1438 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Bifid tongue, Ectopic anus, Urethrovaginal fistula... |
ORPHA:93271 |
| Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Tapered finger, Clinodactyly, Down-sloping shoulders, Renal cyst, Carious te... |
OMIM:615560 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Clinodactyly, Radioulnar synostosis, Penoscrotal hypospadias, Preaxial polydacty... |
OMIM:248340 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Renal malrotation, Bilateral microphthalmos, Pelvic kidney, Horseshoe kidney, Renal... |
OMIM:601186 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Familial Exudative Vitreoretinopathy |
|
Retinal neovascularization, Macular telangiectasia, Vitreous hemorrhage |
ORPHA:891 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
| Aprosencephaly Syndrome |
|
Hand oligodactyly, Anencephaly, Aprosencephaly |
OMIM:207770 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Iris coloboma, Smooth phi... |
ORPHA:2308 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Encephalocele, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebell... |
OMIM:613150 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Leukoencephalopathy, Contractures of the large joints, High palate, Long philtrum, Hyperextensibi... |
ORPHA:521426 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Idiopathic Aplastic Anemia |
|
Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis |
ORPHA:88 |
| Chime Syndrome |
|
Cerebral cortical atrophy, Microdontia, Hip dislocation, Osteolysis, Cleft palate, Short palm, Ab... |
ORPHA:3474 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality... |
ORPHA:805 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Hydroureter, Cystic renal dysplasia, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:615989 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Cerebral cortical atrophy, Hallux valgus, Finger syndac... |
ORPHA:2008 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Renal malrotation, En... |
ORPHA:500095 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Monosomy 18P |
|
Lymphedema, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Fibular a... |
OMIM:228900 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... |
ORPHA:2751 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Stillbirth, Hepatic cysts, Talipes equin... |
OMIM:615415 |
| Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Aganglionic megacolon, Hydroureter, Megacystis, M... |
ORPHA:2604 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... |
OMIM:164200 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Petechiae, Abnormal bleeding, Bruising susceptibility, Internal hemorrh... |
ORPHA:99826 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Coloboma, Renal dysplasia, Renal malrotation, Retinal coloboma, Lon... |
OMIM:617107 |
| Phocomelia, Schinzel Type |
|
Meningocele, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing,... |
ORPHA:2879 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Gingivitis, Glomerulopathy, Delayed eruption of teeth, Taurodontia, Hip dislocatio... |
ORPHA:534 |
| Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatars... |
OMIM:107480 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Microdontia, Optic nerve hypoplasia, Pectus excavatum, Slende... |
OMIM:602535 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Short toe, Short 5th finger, High palate, Tapered fi... |
OMIM:605130 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... |
OMIM:271640 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
| Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... |
OMIM:157980 |
| Chromosome 17Q12 Deletion Syndrome |
|
Upper limb undergrowth, High palate, Short foot, Multicystic kidney dysplasia, Hypoplasia of the ... |
OMIM:614527 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Small hand, Joint hypermobility,... |
ORPHA:2714 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Arthritis, Porencephalic cyst, Arrhinencephaly, Cerebral calcificati... |
ORPHA:51 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Gingival overgrowth, Orofacial cleft, ... |
ORPHA:97360 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly... |
ORPHA:570 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:233 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Postaxial hand polydactyly, Sclerosis of skull base, Talipes equi... |
OMIM:269150 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Abnormal thorax morphology, Elbow flexion contracture, Aplasia/hypoplasi... |
ORPHA:508533 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Humeroradial synostosis, Elbow flexion contracture, Spina bifida occul... |
OMIM:151050 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Proteinuria, Micropeni... |
OMIM:619471 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Microdontia, Pectus excavatum, Everted lower lip vermilion, Smooth ... |
OMIM:613610 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Cervical... |
OMIM:119600 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Microphthalmia, Intrauterine grow... |
ORPHA:290 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Death in infancy, Narrow chest, Thin upper lip vermilion, Alveolar ridge overgrowth,... |
OMIM:235255 |
| Lathosterolosis |
|
Thick upper lip vermilion, High palate, Long philtrum, Myelomeningocele, Toe syndactyly, Postaxia... |
OMIM:607330 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Short toe, Dentinogenesis imperfecta, Periodontitis, Moderate albuminuri... |
OMIM:619269 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse palmar creases, Intraute... |
OMIM:618804 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... |
OMIM:217085 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Hip dislocation, Overlapping toe, Broad hallux, Radi... |
OMIM:154400 |
| Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Conical tooth, Cleft upper lip, Hypoplasia of the radius, Abnormality of the ... |
OMIM:263750 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Dela... |
OMIM:143095 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Hand polydactyly, Rib fusion, Cleft palate, Crani... |
ORPHA:261197 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Cerebral cortical atrophy, Hypoplasia of the brainstem, Hallux valgus, Multiple join... |
ORPHA:464306 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Chiari malformation, Short 1st metacarpal, Hypoplasia of the radius, Optic nerve hy... |
OMIM:609053 |
| Birt-Hogg-Dube Syndrome |
|
Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Renal neoplasm, Colon cancer |
OMIM:135150 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Abnormality of the kidney, Hydrocephalus, Hypoplasia of the fovea, Protruding tongue... |
ORPHA:93400 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, High palate, Crossed fused renal ectopia, Macular hypoplasia, Hy... |
OMIM:300960 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Hydronephrosis, Progressive forearm bowing, Ulnar deviation of the hand ... |
OMIM:600383 |
| Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the brainstem, Tapered finger, Cerebellar hypoplasia, Slender long bone, Inferior c... |
ORPHA:444072 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis... |
OMIM:220220 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Gingival cleft, Abnormal lip morphology, Bifid ... |
ORPHA:2588 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Coloboma, Renal dysplasia, Meningoencephalocele, Optic nerve hypoplasia, Buphthalmos, Type II lis... |
OMIM:236670 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, High palate, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Clinodactyl... |
OMIM:620113 |
| Axial Osteomalacia |
|
Renal cyst, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Wide mouth, Clinodactyly, Macroglossia, Everted lower lip vermilion, Open mouth, Talipe... |
OMIM:616789 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Rectal fistula, Volvulus, Renal agenesis, Anal atresia, Intestinal malrota... |
OMIM:115470 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Cerebral cortical atrophy, Bifid uvula, Abnormal oral frenulum morpholog... |
ORPHA:2753 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, Aplasia/Hypoplasia of the cere... |
ORPHA:75389 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
| Trisomy 10P |
|
Short toe, Contracture of thumb, High palate, Primary microcephaly, Simplified gyral pattern, Abn... |
ORPHA:171929 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Anal atresia, Abnormal cerebral white matter morphology, Uraciluria, Tal... |
OMIM:222748 |
| Vater/Vacterl Association |
|
Renal dysplasia, Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Esophageal atres... |
OMIM:192350 |
| Distal Monosomy 15Q |
|
Genu valgum, Multicystic kidney dysplasia, Bifid tongue, Small hand, Generalized joint laxity, Sh... |
ORPHA:1596 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Adnp Syndrome |
|
Polydactyly, 2-3 toe syndactyly, Broad hallux, Iris coloboma, Smooth philtrum, Microcephaly, Hypo... |
ORPHA:404448 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Aplasia/Hypoplasia of the corpus callosum, Hypo... |
OMIM:222448 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Renal insufficiency, Recurrent urinary tract infections, Acute kidney injury, F... |
ORPHA:731 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morphology, Vesicoureteral reflux, Hypopl... |
ORPHA:857 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Polyhydramnios, Microphthalmia, Dandy-Walker malformatio... |
OMIM:616920 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Coxa valga, Bifid uvula, Dislocated radial head, Cleft palate, Talipes equin... |
OMIM:130070 |
| Japanese Encephalitis |
|
Distal upper limb muscle weakness, Cerebral edema, Abnormal substantia nigra morphology, Pulmonar... |
ORPHA:79139 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Optic nerve hyp... |
OMIM:614643 |
| Opsismodysplasia |
|
Short phalanx of finger, Renal phosphate wasting, Bell-shaped thorax, Metaphyseal cupping, Hypopl... |
OMIM:258480 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Abnormality of dental morphology, Broad phalanges of the 5th finger, ... |
OMIM:615226 |
| Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Thoracic hypoplasia, Ulnar deviation of the h... |
OMIM:208150 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Hand polydactyly, Abnormal rib cage morphology, Syndactyly, Bladd... |
OMIM:217100 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walker malform... |
ORPHA:163961 |
| Retinoblastoma |
|
Hyphema, Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Finger syndactyly, Nephrotic syndrome, Hypoplasia of penis, Postaxi... |
ORPHA:110 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Finger syndactyly, Death in infan... |
ORPHA:989 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial hand polydactyly, Molar tooth sign on MRI, Postaxial foot polydactyly |
OMIM:617563 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Vesicoureteral reflux, Dental malocclusion, Bifid tongue, Long philtrum,... |
OMIM:616894 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Abnormality of the palmar creases, Abnormal cerebellum morphology |
OMIM:618652 |
| Tetrasomy 9P |
|
Renal dysplasia, Bifid uvula, Lissencephaly, Oligospermia, Amelogenesis imperfecta, Cleft palate,... |
ORPHA:3310 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Overlapping toe, Postaxial hand polydactyly, Cleft palate, Gingival overgrowth,... |
OMIM:213980 |
| Alg3-Cdg |
|
Neural tube defect, Dandy-Walker malformation, Hypoplasia of the pons, Metaphyseal chondrodysplas... |
ORPHA:79321 |
| Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Polydactyly |
OMIM:613464 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Stomach cancer, Abnormality of the upper limb, Multicystic kidney dysplasia, Apla... |
ORPHA:1052 |
| Cerebellofaciodental Syndrome |
|
Genu valgum, Tapered finger, Cerebellar hypoplasia, Slender long bone, Shortening of all distal p... |
OMIM:616202 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, High palate, Branchial anomaly, Coloboma, Hip dysplasia, Oligodontia, Bifi... |
ORPHA:453499 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Coloboma, Everted lower lip vermilion, Stage 5 chronic kidne... |
OMIM:619534 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Micropenis, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:2519 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Flexion contracture, Coloboma, Hyperintensity of cerebral white matter on MRI, Flare... |
OMIM:180849 |
| Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Microphthalmia, Brachydactyly, Talipes equinovarus |
OMIM:218340 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormally large globe, High palate, Narrow chest, Thin upper lip vermilion, Alveolar ridge overg... |
ORPHA:1655 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Bifid uvula, Abnormal distal phalanx morpholog... |
ORPHA:2636 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema |
ORPHA:79279 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, H... |
ORPHA:1352 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal brainstem morphology, Cerebellar cyst, Buphthalmos, Abnormal pons morphology, Cerebellar... |
ORPHA:370997 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Villous atrophy, Steatorrhea, Renal cyst, Protein-losing enteropathy, Death... |
OMIM:602579 |
| Syndromic Diarrhea |
|
Villous atrophy, Polycystic kidney dysplasia, Gastritis, Colitis, Renal hypoplasia |
ORPHA:84064 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd finger, Ulnar... |
OMIM:616145 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Long philtrum, Joint hyperflexibility, Hypocalcification of den... |
ORPHA:3134 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
| Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdon... |
ORPHA:221016 |
| Turnpenny-Fry Syndrome |
|
Tapered finger, Microdontia, Pectus excavatum, Overlapping toe, Hypoplasia of the primary teeth, ... |
OMIM:618371 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short phalanx of finger, Abnormal hand morphology, Small hand, Long philtrum, Azoospermia, Broad ... |
OMIM:300845 |
| 1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Foot polydactyly, Hydrocephalus, Hand polydactyly, Clinodactyly of the 5th finger... |
ORPHA:250989 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Monosomy 9P |
|
High palate, Long philtrum, Abnormality of the tarsal bones, Limitation of joint mobility, Hyposp... |
ORPHA:261112 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Short toe, Cerebral cortical atrophy, Tapered finger, Short foot, Unilateral renal agenesis, Pect... |
ORPHA:464311 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Flexion contracture, Villous atrophy, Nephrotic syndrome, Death in infancy,... |
OMIM:212065 |
| Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ... |
ORPHA:509 |
| Aicardi Syndrome |
|
Cleft palate, Optic disc coloboma, Polymicrogyria, Aplasia/Hypoplasia of the cerebellum, Block ve... |
ORPHA:50 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Lymphedema, Pleural effusion, Edema, Microphthalmia, Chylothorax |
ORPHA:2526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Orofaciodigital Syndrome Type 14 |
|
Lobulated tongue, Deviation of the hallux, Bifid tongue, Open operculum, Aplasia of the epiglotti... |
ORPHA:434179 |
| Renpenning Syndrome 1 |
|
High palate, Coloboma, Joint contracture of the hand, Phimosis, Camptodactyly, Anal atresia, Clin... |
OMIM:309500 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Hypoplasia of the brainstem, Joint contracture of the hand, Hypoplasia of the iri... |
OMIM:251300 |
| Marcus-Gunn Syndrome |
|
Cleft palate, Nephrolithiasis, Coloboma, Cleft lip |
ORPHA:91412 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormality of the anus, Agenesis of corpus callosum, Hydrocephalus, Epispadias, Hy... |
ORPHA:2556 |
| Duplication Of The Pituitary Gland |
|
Polyhydramnios, Abnormal midbrain morphology, Encephalocele |
ORPHA:314621 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Bardet-Biedl Syndrome 2 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615981 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Cleft palate, Arthrogryposis multiple... |
OMIM:263650 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cerebellar hypoplasia, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Microphthalmia, Sandal... |
OMIM:612530 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Vasculi... |
OMIM:192315 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus... |
OMIM:253800 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly, Neural tube defect |
OMIM:119580 |
| Wolf-Hirschhorn Syndrome |
|
Periventricular cysts, Hip dislocation, Metatarsus adductus, Short hallux, Iris coloboma, Abnorma... |
OMIM:194190 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Microphthalmia, Bilateral single transverse palmar creases |
ORPHA:3191 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Microdontia, Pectus excavatum, Broad hallux, Everted lower lip vermi... |
OMIM:615873 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Dislocated radial head, Spina ... |
OMIM:135900 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormality of the bladder, Mitten deformity, Multicystic kidney dysplasia, A... |
ORPHA:79404 |
| Galloway-Mowat Syndrome 3 |
|
Camptodactyly, Hip dislocation, Oligohydramnios, Edema, Microphthalmia, Arachnodactyly, Cerebella... |
OMIM:617729 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Hallux valgus, Delayed eruption of teeth, Primary microcephaly, Bifid uvula,... |
ORPHA:261537 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hip dysplasia, Intrauterine growth retardation, Microphthalmia, Cerebellar vermis hypoplasia |
ORPHA:494344 |
| Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Wide mouth, Deep philtrum, Renal dysplasia, Agenesis of corpus callosum, Renal cyst, Microcephaly... |
OMIM:617260 |
| Codas Syndrome |
|
Short phalanx of finger, Metaphyseal dysplasia, Genu valgum, Enamel hypoplasia, Absent epiphyses,... |
OMIM:600373 |
| Hartsfield Syndrome |
|
Cleft upper lip, Agenesis of corpus callosum, Semilobar holoprosencephaly, Lobar holoprosencephal... |
OMIM:615465 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Hydrocephalus, Microphthalmia |
OMIM:616538 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
| Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Bifid uvula, Aphalangy of the hands, Optic nerve hypop... |
OMIM:218600 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
| Peutz-Jeghers Syndrome |
|
Stomach cancer, Abnormal pigmentation of the oral mucosa, Enlarged polycystic ovaries, Renal cell... |
ORPHA:2869 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Upper limb asymmetry, Edema, Microphthalmia, Umbilical hernia |
ORPHA:2505 |
| Cohen Syndrome |
|
Genu valgum, Tapered finger, Finger syndactyly, Slender toe, Clinodactyly of the 5th finger, Narr... |
ORPHA:193 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microphthalmia |
OMIM:614105 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Amoebiasis Due To Free-Living Amoebae |
|
Cerebral edema, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity, Abnormal... |
ORPHA:68 |
| Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo... |
OMIM:601358 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Coloboma, Cerebral calcification, Hypoplasia of the corpus ca... |
ORPHA:199276 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Overlapping toe, Renal cyst, Partial agenesis of the corpus callosum, Microceph... |
OMIM:617478 |
| Cornelia De Lange Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Toe syndactyly, Hip dislocation, Elbow disl... |
ORPHA:199 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry m... |
OMIM:302350 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Long philtrum, Coronal craniosynostosis, Barrel-shaped chest, P... |
OMIM:312830 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Short 4th toe, Hypoplasi... |
OMIM:181450 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Focal T2 hy... |
ORPHA:255249 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Holoprosencephaly 7 |
|
Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Iris coloboma, Cleft palate, Hypopl... |
OMIM:610828 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... |
ORPHA:98755 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Primary microcephaly, Renal cyst, Cerebral atrophy, Nephrocalcinosis... |
ORPHA:445038 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia |
OMIM:612379 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea, Rickets, Renal cyst, Dark urine |
ORPHA:79303 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Short toe, Gingival hyperkeratosis, Hypodontia, Joint laxity, Everted lo... |
OMIM:225410 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hypoplastic colon, Cystic renal dysplasia, Postaxial hand polydactyly, Hypoplasi... |
OMIM:200995 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Oligohydramnios, Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growt... |
OMIM:613451 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerul... |
OMIM:267010 |
| Premature Aging Syndrome, Penttinen Type |
|
Retrocerebellar cyst, Slender long bone, Palmoplantar hyperkeratosis, Corneal stromal edema, Flex... |
OMIM:601812 |
| Holoprosencephaly 3 |
|
Bifid uvula, Solitary median maxillary central incisor, Holoprosencephaly, Microcephaly, Cleft li... |
OMIM:142945 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Clinodactyly, Broad hallux, Sandal gap, Microphthalmia, Brachydactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Cutis Marmorata Telangiectatica Congenita |
|
Abnormality of the upper limb, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, S... |
ORPHA:1556 |
| Mowat-Wilson Syndrome |
|
Flexion contracture, Tapered finger, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Campt... |
ORPHA:2152 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Narrow c... |
ORPHA:3144 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Coloboma, Urinary retention, Ulnar deviation of the wrist, Fixed elbow flexion, A... |
ORPHA:97297 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Camptodactyly, Syndactyly, Bilateral microphthalmos, Abnormality of the hand, Umbil... |
ORPHA:369891 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Cerebellar vermis hypoplasia |
ORPHA:467166 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Microphthalmia, Severe intrauterine growth retardation, Short palm |
OMIM:241410 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage |
OMIM:177850 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221008 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Polydactyly, 3-Methylglutaconic aciduria, Flexion contracture, Abnormal mito... |
ORPHA:17 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Absent thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia, Sh... |
OMIM:603467 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Microphthalmia, Short metacarpal, Hammertoe |
ORPHA:773 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Cerebral cortical atrophy, Stage 5 chronic k... |
OMIM:174000 |
| Okamoto Syndrome |
|
Polydactyly, Abnormally large globe, Urinary incontinence, Exaggerated median tongue furrow, Hip ... |
ORPHA:2729 |
| Distal Monosomy 3P |
|
High palate, Long philtrum, Clinodactyly of the 5th finger, Downturned corners of mouth, Thin ver... |
ORPHA:1620 |
| Renal Cysts And Diabetes Syndrome |
|
Cerebral cortical atrophy, Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney,... |
OMIM:137920 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Vesicoureteral reflux, High palate, Cavum septum pellucidum, Syndactyly, Microcephal... |
OMIM:619869 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... |
ORPHA:480536 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, High palate, Advanced eruption of teeth, Dental crowding, Macroglossia, Long penis, ... |
ORPHA:769 |
| Peters Plus Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Spina bifida occulta, Iris coloboma, Cleft palate, Sho... |
ORPHA:709 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia |
ORPHA:1942 |
| Degcags Syndrome |
|
Polydactyly, Abnormal renal cortex morphology, Toe syndactyly, Smooth philtrum, Intestinal atresi... |
OMIM:619488 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Posterior Meningocele |
|
Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Hydromyelia, Hydroce... |
ORPHA:268810 |
| Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Foot polydactyly, Aganglionic megacolon... |
ORPHA:475 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Short metacarpal, Short metatarsal |
OMIM:600430 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Absent mesencephalon, Talipes ... |
OMIM:601374 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Cerebral cortical atrophy, Tapered finger, Hallux valgus, Cleft soft palate, Pectus ... |
ORPHA:268261 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Small hand, 4-5 finger syndactyly, 2-4 toe cutaneous syndactyly, Broad long bones, Microphthalmia... |
OMIM:257850 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Short long bone, Dysgenesis of the cerebellar vermis, Bowed humerus, Bra... |
OMIM:619479 |
| Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Osteo... |
ORPHA:18 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Hallux valgus, Delayed eruption of teeth, Primary microcephaly, Bifid uvula,... |
ORPHA:261552 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Thin bony cortex, Dental malocclusion, Long philtrum, Wide mouth, Slender long bone,... |
OMIM:612731 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Tented upper lip vermilion, Deep philtrum |
ORPHA:314655 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the anus, Abnormal intestine m... |
ORPHA:1606 |
| 47,Xyy Syndrome |
|
Cerebellar dysplasia, Abnormal brainstem morphology, Dysgenesis of the cerebellar vermis, Hydroce... |
ORPHA:8 |
| Genitopatellar Syndrome |
|
Short phalanx of finger, Delayed eruption of teeth, Talipes equinovarus, Multicystic kidney dyspl... |
OMIM:606170 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Renal cyst, Polycystic ovaries, Microphthalmia, Congenital aphakia, Cleft palate, ... |
ORPHA:137675 |
| Baraitser-Winter Syndrome 1 |
|
Duplication of phalanx of hallux, Microphthalmia |
OMIM:243310 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Foot polydactyly, Hydrocephalus, Microphthalmia, Short palm |
ORPHA:268249 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Umbilical hernia, Multicystic kidney dysplasia, Death in infancy, Renal dysplasia, Aganglionic me... |
OMIM:308205 |
| Williams Syndrome |
|
Peptic ulcer, Cerebral cortical atrophy, Colonic diverticula, Hallux valgus, Aplasia/Hypoplasia o... |
ORPHA:904 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia, Joint contracture of the 5th... |
OMIM:620098 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hydrocephalus, Arachnodactyl... |
ORPHA:2720 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hydrocephalus, Microphthalmia |
OMIM:613001 |
| Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Abnormal cerebellum morphology, Cerebellar vermi... |
ORPHA:2510 |
| Proteus Syndrome |
|
Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Long penis, Buphthal... |
ORPHA:744 |
| Pagod Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Encephalocele, Death in infancy, Renal hypoplasia/apla... |
ORPHA:991 |
| Mend Syndrome |
|
2-3 toe syndactyly, Hydrocephalus, Hand polydactyly, Overlapping toe, Broad hallux, Microphthalmi... |
ORPHA:401973 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal sternum morphology, Abnormal pelvis bone morphology, Renal cyst, Abnor... |
ORPHA:284 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers |
ORPHA:335 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
| Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Bruising s... |
ORPHA:758 |
| Elsahy-Waters Syndrome |
|
Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Pectus excavatum, Agenesis of in... |
OMIM:211380 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Epiphyseal stippling, Hyperoxaluria |
OMIM:601539 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Coloboma, Broad hallux, Abnormal corpus callosum morphology, Abnormality of the urin... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Coloboma, Broad hallux, Abnormal corpus callosum morphology, Abnormality of the urin... |
ORPHA:353277 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Abnormal bleeding, Palpitations |
ORPHA:86839 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Cerebellar vermis atrophy, Microphthalmia, Dandy-Walker malformation |
OMIM:156610 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Death in infancy, Microcolon, Hydroureter, Intestinal malrotation, ... |
ORPHA:2241 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Ol... |
ORPHA:364577 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia, Clinodactyly of the 5th toe, Clinodactyly of the 4th toe |
OMIM:614225 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Agenesis of corpus callosum, Reduced renal c... |
OMIM:618733 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Clinodactyly o... |
ORPHA:568 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Multiple joint contractures, Abnormal globus pallidus morphology, Metaph... |
ORPHA:99646 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Hip dysplasia, Chronic kidney disease, Gastric ulcer |
OMIM:208060 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Microphthalmia |
OMIM:615663 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Purpura, Congestive heart failure, Epistaxis, Gingival bleeding, Gastrointest... |
ORPHA:33226 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Clinodactyly of the 5th finger, Microphthalmia |
ORPHA:2399 |
| Fanconi Anemia |
|
Triphalangeal thumb, Abnormality of the upper limb, Finger syndactyly, Toe syndactyly, Aplasia/Hy... |
ORPHA:84 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Ho... |
OMIM:184705 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Enlarged thorax, Short 4th metacarpal, Pectus excavatum, Celiac disease, Abnormal forearm bone mo... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Enlarged thorax, Short 4th metacarpal, Pectus excavatum, Celiac disease, Abnormal forearm bone mo... |
ORPHA:99228 |
| Monosomy X |
|
Enlarged thorax, Short 4th metacarpal, Pectus excavatum, Celiac disease, Abnormal forearm bone mo... |
ORPHA:99226 |
| Turner Syndrome |
|
Enlarged thorax, Short 4th metacarpal, Pectus excavatum, Celiac disease, Abnormal forearm bone mo... |
ORPHA:881 |
| Cystic Echinococcosis |
|
Renal cyst, Bone cyst, Hepatic cysts, Ovarian cyst, Membranous nephropathy |
ORPHA:400 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Arthritis, Pyloric stenosis, R... |
ORPHA:93111 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Microphthalmia, Neonatal epiphyseal ... |
ORPHA:35173 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Absent radius, Bilateral tali... |
OMIM:614083 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... |
ORPHA:3186 |
| Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Chylothorax, Micropht... |
OMIM:153400 |
| Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:614222 |
| 8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Abnormal metacarpal morphology, Absent palmar crease,... |
ORPHA:284160 |
| Pallister-Killian Syndrome |
|
Short phalanx of finger, Flexion contracture, Delayed eruption of teeth, Renal dysplasia, Bifid u... |
OMIM:601803 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
| Joubert Syndrome 38 |
|
Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619476 |
| Ohdo Syndrome, X-Linked |
|
Hip dysplasia, Clinodactyly, Overlapping toe, Microphthalmia, Ulnar deviation of the hand, Short ... |
OMIM:300895 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Hemimegalencephaly, Renal angiomyolipoma, Renal cell carcinoma, Gingival fibr... |
OMIM:191100 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Absent palmar crease, Syndactyly, Microphthalmia |
OMIM:614230 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Short long bone, Pericardial effusion, Sho... |
OMIM:139210 |
| Loeys-Dietz Syndrome 1 |
|
Abnormal sternum morphology, Eosinophilic infiltration of the esophagus, Bifid uvula, Camptodacty... |
OMIM:609192 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Long philtrum, Cerebellar hypoplasia, Tented philtrum, Optic nerve hypoplasia, Renal cyst, Buphth... |
ORPHA:495875 |
| Phakomatosis Pigmentokeratotica |
|
Nephroblastoma, Coloboma, Spina bifida, Hypophosphatemic rickets, Unilateral renal hypoplasia, Re... |
ORPHA:2874 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia |
OMIM:616449 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Multiple small medullary renal cysts, Osteomalacia, Parathormone-independent increa... |
OMIM:600740 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Cerebellar hypoplasia, 4-5 finger syndactyly, Lobar holoprosencephaly, 2... |
ORPHA:468631 |
| Monosomy 13Q34 |
|
Postaxial foot polydactyly, Microcephaly, Postaxial hand polydactyly, Fetal pyelectasis, Agenesis... |
ORPHA:96168 |
| Jacobsen Syndrome |
|
Macular hypoplasia, Hydrocephalus, Clinodactyly of the 5th finger, Holoprosencephaly, Microphthal... |
OMIM:147791 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Cleft upper lip, Renal agenesis, Hydrocephalus, Anal atresia, Hypoplastic pelvi... |
OMIM:273395 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Peptic ulcer, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency,... |
ORPHA:99880 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Abnormal hand morphology, Finger syndactyly, Spina bifida occulta, Micro... |
ORPHA:464 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Dental malocclusion, High palate, Coloboma, Hypospadias, Microphthalmia, Cleft lip, Cleft palate,... |
OMIM:603457 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Broad thumb, Microphthalmia, Bilateral single transverse... |
ORPHA:1236 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia |
OMIM:612109 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Septo-optic dysplasia, Osteoporosis of vertebrae, Median cleft lip and palate, Optic... |
ORPHA:95494 |
| Parathyroid Carcinoma |
|
Nephroblastoma, Peptic ulcer, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency,... |
ORPHA:143 |
| Tuberous Sclerosis 2 |
|
Hemimegalencephaly, Renal angiomyolipoma, Renal cell carcinoma, Gingival fibromatosis, Cerebral c... |
OMIM:613254 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Coloboma, Broad hallux, Abnormality of the urinary system, Nephrolithiasis, Vesicoureteral reflux... |
ORPHA:353281 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius, Short thumb |
OMIM:600901 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Esophageal Atresia |
|
Abnormality of the urinary system, Coloboma, Pyloric stenosis, Clinodactyly, Renal agenesis, Lary... |
ORPHA:1199 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius, Short thumb, ... |
OMIM:227645 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Subcortical cerebral atrophy, Renal hypoplasia/aplasia, Ureterocele... |
ORPHA:261265 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius, Short thumb |
OMIM:227650 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Wilson Disease |
|
Face of the giant panda sign, Pedal edema, Ascites, Edema |
OMIM:277900 |
| Legius Syndrome |
|
Nephroblastoma, Polydactyly, Abnormal sternum morphology, Clinodactyly of the 5th finger, Male ur... |
ORPHA:137605 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cranium bifidum occultum, Pectoral muscle hypoplasia/aplasia, Microphtha... |
ORPHA:306542 |
| Penile Agenesis |
|
Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, An... |
ORPHA:49 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Sh... |
OMIM:608670 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Enamel hypomineralization, Coloboma, Malabsorption, Glycosuria, H... |
ORPHA:47159 |
| Choanal Atresia |
|
Polydactyly, Craniosynostosis, Tracheomalacia |
ORPHA:137914 |
| Aicardi Syndrome |
|
Chiari malformation, Spina bifida, Microphthalmia, Proximal placement of thumb, Dandy-Walker malf... |
OMIM:304050 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Tapered finger, Clinodactyly of the 5th finger |
ORPHA:65286 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:606519 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Hypoplasia of the retina, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:253280 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia |
OMIM:610651 |
| Retinitis Pigmentosa 74 |
|
Polydactyly, Abnormal renal morphology |
OMIM:616562 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Slender long bone, Abnormality of the hand, Microphthalmia, Metaphyseal widening |
OMIM:234100 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Broad thumb, Microphthalmia, Short distal phalanx of finger |
OMIM:201180 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Oligo... |
OMIM:609049 |
| Rift Valley Fever |
|
Retinal hemorrhage, Abnormal bleeding, Gingival bleeding, Hematemesis, Melena |
ORPHA:319251 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
| Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Sagittal craniosynostosis, Dental malocclusion, High... |
OMIM:614188 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Forearm reduction defects, Small hand, Congenital hip dislocation, Microphthalmia, Short palm, Sh... |
OMIM:268400 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
| Chromosome 13Q14 Deletion Syndrome |
|
Hip dislocation, Clinodactyly of the 5th finger, Overlapping toe, Single transverse palmar crease... |
OMIM:613884 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crea... |
OMIM:223370 |
| Cockayne Syndrome B |
|
Hypoplastic iliac wing, Normal pressure hydrocephalus, Hypoplasia of the iris, Ivory epiphyses of... |
OMIM:133540 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walker malformation |
ORPHA:2612 |
| Mody |
|
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria |
ORPHA:552 |
| Hallermann-Streiff Syndrome |
|
Small hand, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia, Short foot |
ORPHA:2108 |
| Transketolase Deficiency |
|
Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia |
OMIM:614653 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Adducted thumb, Unilateral microphthalmos |
OMIM:618874 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Pearson Syndrome |
|
Glycosuria, Median cleft lip and palate, Steatorrhea, Renal cyst, Lacticaciduria, Microcephaly, P... |
ORPHA:699 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Fontaine Progeroid Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Oligohydramnios, Syndactyly, Absent distal phalanges, Micro... |
OMIM:612289 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Short finger, Broad hallux, Microphthalmia, Arachnodactyly, Cubitus valgus |
OMIM:601552 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Arachnodactyly, Small hand, Short foot, Toe syndactyly, Clinodactyly, Clinodactyl... |
OMIM:613406 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Microphthalmia, Brachydactyly, Talipes equinovarus |
OMIM:100300 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Large intestinal polyposis, Wide mo... |
ORPHA:116 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:309801 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
2-3 toe syndactyly, Tapered finger, Clinodactyly of the 5th finger, Microphthalmia, Short palm, L... |
OMIM:616734 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Small hand, Hip dysplasia, Microphthalmia, Intrauterine growth retardation |
OMIM:620005 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Microphthalmia, Thickened cortex of long b... |
OMIM:127000 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| 8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Short middle phalanx of the 5th finger, Oligohydramnios, Hip dysplasia, Clinoda... |
ORPHA:508488 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mesoaxial foot polydactyly, Camptodactyly, Clinodactyly of the 5th finger, Broad hallux, Overlapp... |
OMIM:612474 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Low urinary cyclic AMP response to PTH administration, Short ... |
ORPHA:280651 |
| Trichothiodystrophy |
|
Clubbing, Diffuse cerebellar atrophy, Bilateral microphthalmos, Intrauterine growth retardation, ... |
ORPHA:33364 |
| Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hydrocephalus, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple ... |
ORPHA:538 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
| Phace Syndrome |
|
Cerebellar hypoplasia, Lens coloboma, Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malfor... |
ORPHA:42775 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, B... |
ORPHA:93325 |
| Holoprosencephaly 1 |
|
Ethmocephaly, Microphthalmia, Alobar holoprosencephaly |
OMIM:236100 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Neuroocular Syndrome |
|
Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Clinodactyly of the 5th ... |
OMIM:619539 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst |
OMIM:193300 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Metaphyseal widening, Tibial bowing |
OMIM:259770 |
| Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology |
ORPHA:70474 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Subdural hemorrhage, Increased blood pressure, Cardiomyopathy |
ORPHA:90324 |
| Holoprosencephaly 2 |
|
Holoprosencephaly, Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly |
OMIM:157170 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage |
ORPHA:91500 |
| Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Camptodactyly of finger, Genu valgum, Finger swelling, Joint contracture of the h... |
OMIM:309000 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Abnormal epiphysis morphology, Dense calcifications in the cerebellar dentate... |
ORPHA:191 |
| Pmm2-Cdg |
|
High palate, Multiple joint contractures, Long philtrum, Nephrotic syndrome, Wide mouth, Abnormal... |
ORPHA:79318 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... |
ORPHA:892 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Neural tube defect |
ORPHA:220386 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Hydrocephalus, Microphthalmia |
OMIM:175780 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Mic... |
ORPHA:649 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Transient ischemic attack, Hypertension, Lef... |
ORPHA:51608 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Morm Syndrome |
|
Abnormality of the kidney, Micropenis |
ORPHA:75858 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis |
OMIM:610156 |
