Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity |
ORPHA:351 |
Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Corneal opacity, Carpal osteolysis, Gingival ove... |
OMIM:277950 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Autosomal Dominant Keratitis |
|
Coloboma, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovasculariza... |
ORPHA:2334 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microcornea, Corneal opacity, Microphthalmia, Recurrent respiratory in... |
ORPHA:2432 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Sparse eyelashe... |
OMIM:257850 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Corneal opacity, Pers... |
ORPHA:1067 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Small for gestational age, Short philtru... |
ORPHA:1617 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Abnormal mandible morphology, Posterior embryotoxon, Wei... |
ORPHA:3163 |
Gorlin Syndrome |
|
Vertebral fusion, Mandibular prognathia, Epicanthus, Vertebral wedging, Iris coloboma, Cataract, ... |
ORPHA:377 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Recurrent urinary tract infections, Abnormal vertebral segmentation and fusion, ... |
OMIM:244600 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Avascular necrosis, Kyphosis, Widely s... |
ORPHA:61 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uv... |
OMIM:617388 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Cleft upper lip, Megalocornea, Abnormali... |
ORPHA:915 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Ptosis, Iris cyst, Epicanthus |
OMIM:620086 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Corneal opacity, Chorioret... |
ORPHA:1473 |
Mucolipidosis Type Iii |
|
Hyperlordosis, Craniofacial hyperostosis, Corneal opacity, Cleft palate, Joint stiffness, Abnorma... |
ORPHA:577 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Orbital cyst, Microcornea |
OMIM:251505 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Scoliosis, Corneal opacity, Thin vermilion border, Abnormal form of the vertebral b... |
ORPHA:2370 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Kid Syndrome |
|
Gingivitis, Corneal erosion, Keratoconjunctivitis sicca, Punctate keratitis, Recurrent cutaneous ... |
ORPHA:477 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Scoliosis, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... |
OMIM:160565 |
Kbg Syndrome |
|
Vertebral fusion, Long philtrum, Thoracic kyphosis, Synophrys, Oligodontia, Long palpebral fissur... |
ORPHA:2332 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Aniridia 1 |
|
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Corneal neovascularization, Ectopia le... |
OMIM:106210 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Wrist pain, Micrognathia, Metatarsal osteolysis, Ankle pain, Hypertension, Hypopl... |
OMIM:166300 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Back pain, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization... |
OMIM:278730 |
Trisomy 9P |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Non-midline cleft lip, Sacral dimple, ... |
ORPHA:236 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Butterfly verte... |
ORPHA:313892 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Scheie Syndrome |
|
Genu valgum, Mandibular prognathia, Retinal degeneration, Aortic regurgitation, Spondylolisthesis... |
OMIM:607016 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Obtuse angle of mandible, Megalocornea, Radioulnar dislocation, Temporom... |
ORPHA:2741 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Clef... |
OMIM:618469 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Splenomegaly, Mandibular prognathia, I... |
ORPHA:2969 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Epicanthus, Hypodontia, ... |
ORPHA:2916 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Optic atrophy, Micrognathia, Developmental cataract, Hypertrophic cardiomy... |
OMIM:617183 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Long philtrum, Finger joint hypermobility, Limbal stem cell deficiency, Corneal neovascularizatio... |
OMIM:615225 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Mandibular prognathia, Long philtrum, Deep philtrum, Epicanthus, ... |
OMIM:152950 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Long philtrum, Wide mouth, Micrognathia, Oligodon... |
OMIM:602562 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Widely spaced teeth, Microdontia, Narrow v... |
OMIM:601216 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... |
OMIM:178110 |
Bartsocas-Papas Syndrome 2 |
|
Ankyloblepharon, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Co... |
OMIM:619339 |
Distal Monosomy 6P |
|
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Microg... |
ORPHA:96125 |
Alagille Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Butterfly vertebral arch, Micrognathia... |
ORPHA:52 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Hyperopic astigmatism, Blepharophimosis, Hypop... |
ORPHA:397973 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Unilateral narrow palpebral fissure, Micro... |
OMIM:618727 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Ret... |
ORPHA:2791 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigme... |
ORPHA:1390 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Microdontia, Keratoconjunctivitis sicca, Bifid uvula, Abnormal lacrimal gland morph... |
ORPHA:2363 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Ptosis, Joint stiffn... |
ORPHA:2064 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Cleft upper lip, Flexion contracture, Ab... |
OMIM:312150 |
Woolly Hair |
|
Abnormal pupil morphology, Hypopigmentation of hair, Cataract, Sparse lateral eyebrow |
ORPHA:170 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid morphology, Micrognat... |
ORPHA:1794 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Hypoplasia of the maxilla... |
ORPHA:2399 |
Stickler Syndrome Type 1 |
|
Long philtrum, Hypoplasia of the maxilla, Cataract, Joint hyperflexibility, Platyspondyly, Retina... |
ORPHA:90653 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Telecanthus, Thin vermilion border |
ORPHA:1532 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Narrow palate, Kyphosis, Epicanthus, Blepharophimosis, Vertebral segmentation d... |
ORPHA:96169 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Kniest Dysplasia |
|
Short neck, Enlarged joints, Delayed patellar ossification, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:485 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Micrognathia, Acetabula... |
OMIM:616549 |
Verheij Syndrome |
|
Vertebral fusion, Long philtrum, Coloboma, Hip dislocation, Thin upper lip vermilion, Short neck,... |
OMIM:615583 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Melanocytic nevus, Short neck, Decreased skull ossification, Scoliosis, Thrombocytopenia,... |
ORPHA:3319 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... |
OMIM:113000 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Duane Retraction Syndrome |
|
Blepharospasm, Patchy hypopigmentation of hair, Micrognathia, Camptodactyly, Hypoplastic iris str... |
ORPHA:233 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Enamel hypoplasia, Retinal pigment epithelial atrophy, F... |
OMIM:270200 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Shoulder dislocation, Lagophthalmos, Tarsal sclerosis, Delayed skeletal maturation, Splenomegaly,... |
ORPHA:404454 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Hypertension, Ectopia lentis, Cataract, Ectopia pupillae, Malar flattening... |
ORPHA:1885 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Reduced bone mineral density, Genu valgum, Joint dislocation, Kyphosis, Wide mouth... |
ORPHA:582 |
Brachyolmia Type 1, Toledo Type |
|
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Squared-off platyspondy... |
OMIM:271630 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosi... |
ORPHA:284160 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, High palate, Epicanth... |
OMIM:618175 |
Frontonasal Dysplasia 1 |
|
Coloboma, Hypoplastic frontal sinuses, Joint contracture of the hand, Epicanthus, Camptodactyly, ... |
OMIM:136760 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Microcornea, Ptosis, Iris coloboma, Kyphoscoliosis, Microphthalmia, Chori... |
OMIM:300915 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Ovoid vertebral bodies, Genu valgum, Ulnar deviation of the wrist, Opacification ... |
OMIM:253010 |
Triopia |
|
Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Median cle... |
ORPHA:3374 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic atrophy, Micrognathia, Optic nerve hypoplasia, Hypertrophic cardiomy... |
ORPHA:496790 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Patellar dislocation, Epicanthus, Micrognathia, Short neck, Cleft palat... |
ORPHA:567 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Promine... |
ORPHA:364577 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Otopalatodigital Syndrome Type 1 |
|
Downslanted palpebral fissures, Hypoplastic frontal sinuses, Increased bone mineral density, Olig... |
ORPHA:90650 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Erythematous oral mucosa, Corneal neovascularization, Cataract, Eosinophili... |
OMIM:158310 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Patellar dislocation, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip dislo... |
ORPHA:534 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Absent lacrimal punctum, ... |
OMIM:167730 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Limited elbow extension, Hypoplastic frontal sinuses, Delayed... |
OMIM:265900 |
Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Micrognathia, Synostosis of joints, Median cl... |
ORPHA:1234 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Micrognathia, Tooth agenesis, Amelogenesis imperfecta, Cle... |
OMIM:618363 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, High palate, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Micrognathia, Dental crowding, Lumbar scoliosis |
OMIM:108450 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Malan Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Advanced eruption of teeth, ... |
OMIM:614753 |
Cohen Syndrome |
|
Micrognathia, Iris coloboma, Tooth agenesis, Abnormal eyelash morphology, Thick eyebrow, Gingival... |
ORPHA:193 |
Woolly Hair Nevus |
|
Widely-spaced incisors, Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupilla... |
ORPHA:79414 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Recurrent respiratory infections, Kypho... |
OMIM:607015 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Pl... |
OMIM:156510 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Pr... |
ORPHA:363417 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Long philtrum, Epicanthus, Long eyelashes, Recurrent patellar dislocation, Micro... |
OMIM:615877 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Genu valgum, Flexion cont... |
ORPHA:2712 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati... |
ORPHA:54 |
Koolen-De Vries Syndrome |
|
Epicanthus, Iris hypopigmentation, Hip dislocation, Everted lower lip vermilion, Prominent metopi... |
OMIM:610443 |
Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, Enamel hypoplasia, C2-C3 subluxation, Capitate-hamate fusion, Bl... |
OMIM:272460 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Malar prominence, Abnormality of... |
ORPHA:2522 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi... |
ORPHA:1248 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Macroglossia, Elbow contr... |
OMIM:606612 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Cataract, Kyphoscolio... |
OMIM:136300 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Epicanthus, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Scoliosis, ... |
ORPHA:530983 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Abnormality o... |
ORPHA:2345 |
Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Anterior beaking of lumbar v... |
OMIM:253000 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Selective tooth agenesis, Delayed eruption of... |
OMIM:305620 |
Cohen Syndrome |
|
Downslanted palpebral fissures, Childhood-onset truncal obesity, Leukopenia, Genu valgum, Macrodo... |
OMIM:216550 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Keratoglobus, Epicanthus, Joint laxity, Congenital hip dislocation, Sp... |
OMIM:229200 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal op... |
ORPHA:290 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Anterior clefting of... |
OMIM:265000 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Lens subluxation, Short neck, Pseudopapilledema |
ORPHA:3456 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Unilateral microphthalmos, Optic nerve hypopla... |
ORPHA:137902 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
3Q29 Microduplication Syndrome |
|
Downslanted palpebral fissures, High palate, Deep philtrum, Camptodactyly of toe, Aniridia, Iris ... |
ORPHA:251038 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Increased bone mineral densit... |
ORPHA:90652 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short palpebral fissure, Upslanted palpebral fissure, Blepharophimosis, Narrow palpebral fissure,... |
OMIM:151200 |
Lateral Meningocele Syndrome |
|
Downslanted palpebral fissures, Biconcave vertebral bodies, Vertebral fusion, High palate, Long p... |
OMIM:130720 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Avascular necrosis, Corneal erosion, Recurrent fractures, Hypertension... |
ORPHA:1764 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Abnormal vertebral morphology, Limitation of joint mobility, Corneal opaci... |
ORPHA:93476 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Micrognathia, Downturned corners of mouth, Corneal opacity, Craniosynosto... |
ORPHA:1064 |
Lowry-Maclean Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Developmental glaucoma, Megalocornea, Talon cusp, D... |
ORPHA:2409 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Hypoplastic frontal sinuses, Epicanthus, Hypoplasia of the... |
ORPHA:391474 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of the jaw, Orb... |
OMIM:109400 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed ... |
OMIM:259600 |
Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... |
ORPHA:3019 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormally prominent line of Schwalbe, Hip dislocation, Hypoplasia of the maxilla... |
OMIM:109120 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Larsen Syndrome |
|
Hip dislocation, Elbow dislocation, Spina bifida occulta, Hypoplastic cervical vertebrae, Beaking... |
OMIM:150250 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Hypoplasia of the iri... |
OMIM:175780 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Short neck, Thick eyebrow, Gingival overgrowth, Anterior beaking of lumbar v... |
OMIM:253220 |
Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly,... |
OMIM:230650 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 ve... |
OMIM:214300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Macroglossia, Dilated car... |
OMIM:607155 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Restrictive cardiomyopathy, Epicanthus, Camptodactyly, Osteolysis involving ... |
ORPHA:88630 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Long philtrum, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis,... |
OMIM:615145 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:122600 |
Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Weight loss, Cataract, Corneal opacity, Hypermelanotic macule |
ORPHA:317 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Megalocornea-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Genu varum, Megalocornea, High palate, Kyphosis, Epicanthus, Hypo... |
ORPHA:2479 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy,... |
OMIM:618815 |
Wagro Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, Micrognathia, Dental crowding, Hypertensio... |
OMIM:612469 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Long philtrum, Wide mouth, Coloboma, Long palpebral fissure, Thin upper lip vermili... |
OMIM:614583 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Carpenter Syndrome 1 |
|
Lateral displacement of patellae, Optic atrophy, Epicanthus, Micrognathia, Camptodactyly, Spina b... |
OMIM:201000 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Epicanthus, Radioulnar synostosis, Microcornea, Abnormal palate morphology, Iris colobo... |
ORPHA:921 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion |
OMIM:618845 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana... |
OMIM:606842 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Joint laxity, Osteopenia, Corneal opacity, Microphthalmia,... |
ORPHA:2788 |
Zellweger Syndrome |
|
Brushfield spots, High palate, Posterior embryotoxon, Epicanthus, Micrognathia, Epiphyseal stippl... |
ORPHA:912 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic acetabulae, Spina bifida occulta, Congenital hip dislocation, Iris colobom... |
OMIM:169550 |
Crouzon Syndrome |
|
Conjunctivitis, Narrow palate, Melanocytic nevus, Hypopigmented skin patches, Hypoplasia of the m... |
ORPHA:207 |
Schimke Immuno-Osseous Dysplasia |
|
Ischemic stroke, Microdontia, Abnormality of primary molar morphology, Short neck, Ovoid vertebra... |
ORPHA:1830 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... |
OMIM:214150 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower lip... |
ORPHA:782 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Micrognathia, Cervical kyphosis, Flat acetabular roof, Elbow dislocation, Cerv... |
OMIM:108721 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Avascula... |
ORPHA:83451 |
Sialidosis Type 2 |
|
Osteoporosis, Flexion contracture, Corneal opacity, Kyphosis |
ORPHA:87876 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Lumbar platyspondyly, Corneal opacity, Beaking of vertebral bodie... |
OMIM:618961 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma... |
ORPHA:141099 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Micrognathia, Synophrys, Recurrent sinusitis, Short neck, Beaking of vertebral bodies... |
OMIM:213980 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Hypod... |
OMIM:602482 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Downslanted palpebral fissures, Leukopenia, Small for gestational age, Pulmonic ste... |
OMIM:301056 |
Al-Gazali Syndrome |
|
Wrist flexion contracture, Recurrent fractures, Micrognathia, Failure to thrive, Osteopenia, Corn... |
OMIM:609465 |
Acro-Renal-Ocular Syndrome |
|
Short palpebral fissure, Vertebral fusion, Coloboma, Epicanthus, Vertebral segmentation defect, M... |
ORPHA:959 |
Martsolf Syndrome 1 |
|
Finger joint hypermobility, Epicanthus, Micrognathia, Cardiac arrest, Lumbar hyperlordosis, Avasc... |
OMIM:212720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Spinal rigidity, Macroglossia, Elevated circulating creatine kinase concentratio... |
OMIM:613150 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Synophrys, Broad eyebrow, Narrow palpebral fissure, Hypoplasia of the ... |
OMIM:618302 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Coloboma, Abnormality of dental morphology, Kyphoscoliosis, Hypophosphatemic... |
OMIM:163200 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Joint stiffness, Aortic regurgitation, Short neck, Scoliosi... |
OMIM:252605 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ... |
ORPHA:50814 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Kyphosis, Hypoplasia of the maxilla, Scoliosis, Slender build |
OMIM:300676 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturat... |
OMIM:601812 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Ulnar deviation of the wrist, Blepharoph... |
ORPHA:1529 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Decreased body weight, Small for gestational age, Hypoplasia of the maxill... |
ORPHA:93950 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short palpebral fissure, Downslanted palpebral fissures, High palate, Epicanthus, Micrognathia, S... |
OMIM:614230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Cataract, Microphthalmia, Corneal opacity, Retinal detachment |
OMIM:613153 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Corneal opacity, Conical primary incisor, Curly eyelashes, Sparse eyelashes, Blep... |
OMIM:602400 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
Myhre Syndrome |
|
Camptodactyly, Short neck, Cleft palate, Thick eyebrow, Vertebral fusion, Blepharophimosis, Limit... |
OMIM:139210 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Posterior synechiae o... |
ORPHA:209959 |
Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... |
OMIM:259610 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Micropht... |
ORPHA:324416 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Synophrys, Micrognathia, Everted lower lip verm... |
OMIM:608670 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, High palate, Generalized joint laxity, Bilateral ptosis, Micrognathia, Face... |
OMIM:618000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Hypoplasia of the thymus, Joint contracture of the hand, Epicanthus, Micrognath... |
OMIM:214110 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Microdontia, Anterior chamber synechiae, Hypodontia, Short philtrum, Micro... |
OMIM:601499 |
Mucolipidosis Iv |
|
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy |
OMIM:252650 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Hyperphosphatemia, Mandibular prognathia, Melanocytic nevus, Delayed eruptio... |
OMIM:101800 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Retrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High palate, Fle... |
ORPHA:98791 |
Temtamy Syndrome |
|
Downslanted palpebral fissures, Long philtrum, Lens luxation, Micrognathia, Hip dislocation, Ecto... |
OMIM:218340 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Micrognathia, Dislocated radial head, Short neck, A... |
OMIM:268310 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermi... |
OMIM:618737 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Delayed skelet... |
ORPHA:192 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Hurler Syndrome |
|
Cardiomyopathy, Biconcave vertebral bodies, Flexion contracture, Kyphosis, Bilateral ptosis, Micr... |
OMIM:607014 |
Pycnodysostosis |
|
Delayed cranial suture closure, Micrognathia, Increased bone mineral density, Increased susceptib... |
ORPHA:763 |
Aicardi Syndrome |
|
Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Butterfly vertebrae, Pro... |
OMIM:304050 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
High palate, Lumbar scoliosis, Small for gestational age, Synophrys, Short philtrum, Astigmatism,... |
OMIM:617796 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Flexion contracture, Hip dislocation, Thoracic kyphoscoliosis, Generalized hypoplasia of dental e... |
OMIM:203550 |
Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Kyphosis, Craniofacial asymmetry, Vertebral segmentation defect, ... |
ORPHA:1724 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Sanjad-Sakati Syndrome |
|
Long philtrum, Recurrent respiratory infections, Micrognathia, Spinal canal stenosis, Patchy oste... |
ORPHA:2323 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Hyaloid vascular remnant and re... |
ORPHA:91495 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Coloboma, Butterfly vertebrae, Optic nerve aplasia, Optic... |
OMIM:206900 |
Sialidosis Type 1 |
|
Kyphosis, Thick lower lip vermilion, Cataract, Delayed skeletal maturation, Scoliosis, Corneal op... |
ORPHA:812 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Platyspondyly, Lens subluxation, Ovoid vertebral bodies, Cor... |
ORPHA:85167 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Microphthalmia, Sclerocornea |
OMIM:611038 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Abnormal sacrum morphology, Hypoplasia of the maxilla, Ptosis, Abnormal palate mor... |
ORPHA:93262 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Sc... |
ORPHA:776 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Mandibular prognathia, Long philtrum, Kyphosis, Weight lo... |
ORPHA:354 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Coronal craniosynostosis, Oligodontia, Hypoplasia of the maxilla, Ast... |
ORPHA:2095 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Cardiac arrest, Dilated cardiomyo... |
OMIM:300952 |
Treacher-Collins Syndrome |
|
Blepharospasm, Hypoplasia of the thymus, Micrognathia, Iris coloboma, Tooth agenesis, Abnormality... |
ORPHA:861 |
Stickler Syndrome |
|
Epicanthus, Micrognathia, Cachexia, Hip dislocation, Ectopia lentis, Tooth agenesis, Slender buil... |
ORPHA:828 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Delayed skeletal maturation, Palpitations, Cleft palate, Prolonged QTc interval, Sh... |
OMIM:170390 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Ch... |
OMIM:120200 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Patellar dislocation, Multiple joint contractures, Micrognathia, Elbow flexi... |
ORPHA:536471 |
Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Synophrys, Bifid uvula, Phthisis bulbi, Thick eyebrow, Increased cup-t... |
OMIM:211380 |
Shashi-Pena Syndrome |
|
Retrognathia, Kyphosis, Epicanthus, Synophrys, Accelerated skeletal maturation, Long eyelashes, T... |
OMIM:617190 |
Marshall Syndrome |
|
Thick upper lip vermilion, Sparse eyebrow, Genu valgum, High palate, Long philtrum, Hypoplastic f... |
ORPHA:560 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Ocular albinism, Choroideremia, Iris hypopigmentation, Microdontia, Limitation of joint m... |
ORPHA:2719 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Mucopolysaccharidosis Type 1 |
|
Avascular necrosis, Joint dislocation, Optic atrophy, Widely spaced teeth, Thick lower lip vermil... |
ORPHA:579 |
Sponastrime Dysplasia |
|
Hip subluxation, Microcoria, Epicanthus, Microdontia, Ivory epiphyses of the phalanges of the han... |
ORPHA:93357 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Radioulnar dislocation, Temporomandibular joint ankylosis, Elbow dislocation, Decre... |
OMIM:164900 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Small for gestational age, Disharmonious carpal bone, Hypoplasia of the maxilla, Fai... |
OMIM:608154 |
Hec Syndrome |
|
Abnormal pupil morphology, Cardiomyopathy, Developmental cataract, Arrhythmia |
ORPHA:2119 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Micrognathia, Ptosis, Abnormal palate morphology, Scolio... |
ORPHA:2617 |
Apert Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, Narrow palate, Corneal erosion, Optic atro... |
ORPHA:87 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... |
ORPHA:3214 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Coloboma, Micrognathia, Abnormal optic disc morphology, Hip dislocation, Optic nerve hypoplasia, ... |
ORPHA:508498 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Micrognathia, Supernumerary tooth, Limitation of joint mobility, ... |
ORPHA:3145 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Narrow palate, T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Kyphosis, Short neck, H... |
OMIM:618223 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Micrognathia, Ventricular arrhythmia, Pa... |
ORPHA:37553 |
Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the... |
OMIM:123500 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... |
OMIM:313400 |
3Mc Syndrome 2 |
|
Downslanted palpebral fissures, Cleft upper lip, High palate, Limited elbow movement, Blepharophi... |
OMIM:265050 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Increased bone mineral density, Macroglossia, Hypoplasia of the maxilla,... |
ORPHA:1798 |
Megalocornea-Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Genu valgum, Megalocornea, High palate, Long philtrum, Epicanthus... |
OMIM:249310 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Megalocornea, Mandibular prognathia, Long philtrum, Hypoplasia of the ma... |
ORPHA:1101 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Anteri... |
OMIM:253200 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Bifi... |
ORPHA:1826 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Microp... |
ORPHA:231736 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Downslanted palpebral fissures, Long philtrum, Wide mouth, Epicanthus, Coloboma, Micrognathia, Jo... |
OMIM:618659 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Developmental cataract, Aortic regurgitation, Os... |
OMIM:616603 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Kbg Syndrome |
|
Downslanted palpebral fissures, Vertebral arch anomaly, Vertebral fusion, Long philtrum, Thoracic... |
OMIM:148050 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Epicanthus, Prominence of the premaxilla, Congenital hip dislocation, Ab... |
ORPHA:2412 |
Aicardi Syndrome |
|
Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Butterfly vertebrae, Pro... |
ORPHA:50 |
Weill-Marchesani Syndrome 1 |
|
Tooth malposition, Narrow palate, Pulmonic stenosis, Abnormality of dental morphology, Spinal can... |
OMIM:277600 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Downslanted palpebral fissures, Long philtrum, Anterior vertebr... |
OMIM:171480 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalm... |
ORPHA:1806 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Coloboma, Microcornea |
OMIM:602499 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Thick lower lip vermilion, Macroglossia, Joint stiffness, Failure to thriv... |
ORPHA:583 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Wide mouth, Optic atrophy, Malar prominence, Abnormality of retinal pigmen... |
ORPHA:2715 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Hyperopic astigmatism, Retinal degeneration, Irregular carpal bones, Carpa... |
OMIM:252600 |
Goldberg-Shprintzen Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Corneal erosion, Synophrys, Oligodontia, Short phil... |
OMIM:609460 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short palpebral fissure, Downslanted palpebral fissures, Cleft upper lip, Telangiectasia, High pa... |
OMIM:612582 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Irregular vertebral endplates, Mandibular prognathia, Long philtrum, Micrognathia, A... |
ORPHA:439822 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Absent lacrimal punctum, Absent eyelashes, Thick vermilion border, Microretrognath... |
ORPHA:228396 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Spina bifida occulta, Osteolysis, Eosinophili... |
ORPHA:464 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Downslanted palpebral fissures, Nata... |
OMIM:269300 |
Sifrim-Hitz-Weiss Syndrome |
|
Short palpebral fissure, Epicanthus, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof,... |
OMIM:617159 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Long philtrum, Blepharophimosis, Submucous cleft hard pa... |
ORPHA:178303 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, High palate, Patellar aplasia, Vertebral segmentation defect, Micrognath... |
ORPHA:96061 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... |
OMIM:613686 |
Oculocerebrocutaneous Syndrome |
|
Wide mouth, Hypopigmented skin patches, Ptosis, Iris coloboma, Eyelid coloboma, Congenital hip di... |
ORPHA:1647 |
20P12.3 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Long philtrum, Epicanthus, Wolff-Parkinson-White syndrome, Hypopl... |
ORPHA:261295 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis, Cleft upper lip, Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures... |
ORPHA:3253 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyelashes, Butterfly vertebrae, Corneal neovascularization, Hip dislocation, Hypertension,... |
OMIM:308205 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Micrognathia, Hip dislocation, Iris coloboma, Abnormal sternal ossification, Delayed ... |
OMIM:194190 |
Nager Syndrome |
|
Non-midline cleft lip, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Lower e... |
ORPHA:245 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Smooth philtrum, Joint stiffness,... |
ORPHA:585 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short palpebral fissure, Recurrent otitis media, Thin upper lip vermilion, Overweight, Cervical C... |
ORPHA:370010 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Retrognathia, Downslanted palpebral fissures, Phakodonesis, Dental malocclusion, High palate, Ant... |
OMIM:601552 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 v... |
OMIM:118100 |
Mucolipidosis Type Iv |
|
Microdontia, Abnormality of retinal pigmentation, Everted lower lip vermilion, Corneal opacity, G... |
ORPHA:578 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Epiphyseal stippling, Short neck, Scoliosis, Corneal opacit... |
ORPHA:584 |
Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Decreased body weight, Fused cervical vertebrae, Astigmatism, Short neck, Micr... |
OMIM:609053 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Epicanthus, Micrognathia, Microdontia, Everted low... |
ORPHA:570 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Anemia, Long philtrum, Mydriasis, Osteopetrosis, Micrognathia, Increased bone mi... |
OMIM:259720 |
De Barsy Syndrome |
|
Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, High palate, Generali... |
ORPHA:2962 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Downslanted palpebral fissures, Increased susceptibility to fract... |
ORPHA:357058 |
Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Hypoplastic acetabulae, Broad carpal bones, Hypoplasia of the odontoid process, Abno... |
ORPHA:239 |
Wilson Disease |
|
Anemia, Back pain, Weight loss, Arthritis, Bone pain, Failure to thrive, Kayser-Fleischer ring, J... |
ORPHA:905 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Elbow flexion contracture, Ectopia lentis, Delayed skeletal maturation, Iridodo... |
OMIM:608328 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Retrognathia, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Camptodactyly,... |
OMIM:272430 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Recurrent gastroenteritis, Aortic regurgitation, Cataract, Osteopenia, Corneal opac... |
ORPHA:309288 |
Lathosterolosis |
|
Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Anisopoikil... |
ORPHA:46059 |
Knobloch Syndrome 1 |
|
Horizontal eyebrow, Iris transillumination defect, Epicanthus, Developmental cataract, Joint hype... |
OMIM:267750 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, High palate, Micrognathia, Hip dislocation, Limitation of joint mobility... |
ORPHA:99776 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Widely spaced teeth, Fair hair, ... |
OMIM:105830 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Optic nerv... |
OMIM:236670 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Mental Retardation Syndrome, Belgian Type |
|
Mandibular prognathia, Coloboma, Eunuchoid habitus |
OMIM:249599 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cataract, Protruding tongue, Corneal opacity, Gingival overgrowth, Abnormal form o... |
ORPHA:93399 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Inc... |
OMIM:300946 |
Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular diastolic dysfunction, Delayed eruption of teeth, Short lingual frenulum, Microg... |
ORPHA:740 |
Flynn-Aird Syndrome |
|
Kyphosis, Cachexia, Cataract, Scoliosis, Carious teeth, Joint stiffness |
ORPHA:2047 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Cleft palate, Microphthalmia |
OMIM:257910 |
Alpha-Mannosidosis, Infantile Form |
|
Osteolysis, Short neck, Genu valgum, Avascular necrosis, Macroglossia, Recurrent gastroenteritis,... |
ORPHA:309282 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Downslanted palpebral fissures, Hyperextensibility at wrists, Flexion contracture, High palate, L... |
ORPHA:481152 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, Conical tooth, Cleft upper lip, Selective tooth agenesis, Absent eyelashes, Ankyl... |
OMIM:106260 |
15Q24 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Long philtrum, Kyphosis, Epicanthus, Thick lower lip vermilion, S... |
ORPHA:94065 |
Mietens Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Elbow ankylosis, Hip dislocation, Microcorne... |
ORPHA:2557 |
Hurler Syndrome |
|
Camptodactyly of finger, Cardiomyopathy, Abnormality of the elbow, Spinal canal stenosis, Abnorma... |
ORPHA:93473 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Coloboma, Unilateral microphthalmos, Bilateral microphthalmos, Unilateral ptosis, ... |
OMIM:619318 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Malar prominence, Hepatosplenomegaly, Splenomegaly, High-output ... |
ORPHA:231226 |
3Mc Syndrome 3 |
|
Sacral dimple, Cleft upper lip, Blepharophimosis, Radioulnar synostosis, Ptosis, Epicanthus inver... |
OMIM:248340 |
Farber Disease |
|
Abnormal conjunctiva morphology, Anemia, Flexion contracture, Abnormality of the knee, Abnormalit... |
ORPHA:333 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Vertebral fusion, Downslanted palpebral fissures, High palate, Narrow palate... |
OMIM:227330 |
Scheie Syndrome |
|
Wide mouth, Limitation of joint mobility, Aortic regurgitation, Everted lower lip vermilion, Corn... |
ORPHA:93474 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Failure to thrive, Corneal opacity, Abnormality o... |
ORPHA:349 |
Schimke Immunoosseous Dysplasia |
|
Microdontia, Short neck, Ovoid vertebral bodies, Thrombocytopenia, Lumbar hyperlordosis, Transien... |
OMIM:242900 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, Sacral dimple, Short palpebral fissure, High palate, Ep... |
OMIM:601390 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... |
ORPHA:650 |
Tangier Disease |
|
Cicatricial ectropion, Myocardial infarction, Decreased HDL cholesterol concentration, Ectropion,... |
OMIM:205400 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Epicanthus, Delayed eruption of teeth, Micrognathia, Microdontia, Spar... |
OMIM:268400 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Anemia, Hypopigmentation of the skin, Failure to thrive, Depigmentation/hyperp... |
ORPHA:79396 |
Linear Verrucous Nevus Syndrome |
|
Iris coloboma, Abnormal cornea morphology, Cataract, Scoliosis, Genu recurvatum, Reduced bone min... |
ORPHA:2611 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma, Sclero... |
ORPHA:139471 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, Microphthalmia, Hemivertebrae, Sclerocornea |
ORPHA:77298 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior ... |
ORPHA:39044 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Epicanthus, Micrognathia, Taurodontia, Median cle... |
ORPHA:2710 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Retinal pigment epithelial mottling |
OMIM:619649 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition |
ORPHA:2776 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Micrognathia, Synophrys, Osteolysis, Iris col... |
ORPHA:955 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Walker-Warburg Syndrome |
|
Abnormal circulating creatine kinase concentration, Bifid uvula, Submucous cleft hard palate, Mic... |
ORPHA:899 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Malar prominence, Hepatosplenomegaly, Splenomegaly, High-output ... |
ORPHA:231214 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Joint hypermobility, Cataract, Microphthalmia, Cleft palate, High, narrow palate |
ORPHA:2714 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Coloboma, Epicanthus, Micrognathia, Synophrys, Everted lower lip vermili... |
ORPHA:251014 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Flexion contracture, Coloboma, Retinal degeneration, Cataract, Scoliosis,... |
OMIM:615249 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Long philtrum, Blepharophimosis, Micrognathia, Abnormal ... |
ORPHA:1968 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, High palate, Heart murmur, Epicanthus, Accelerated skeletal matur... |
OMIM:618653 |
Pfeiffer Syndrome |
|
Hyperlordosis, Mandibular prognathia, High palate, Synostosis of carpal bones, Short philtrum, Pt... |
ORPHA:710 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Cleft palate, Glossoptosis, Abnorm... |
ORPHA:1452 |
Monosomy 18P |
|
Epicanthus, Micrognathia, Hypodontia, Short philtrum, Hypertension, Ptosis, Kyphoscoliosis, Downt... |
ORPHA:1598 |
Stevenson-Carey Syndrome |
|
Downslanted palpebral fissures, Pierre-Robin sequence, Coloboma, Joint contracture of the hand, R... |
OMIM:611961 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Eclabion, Developmental cataract, Lymphopenia, Failure to thrive, Cataract, Ectropio... |
OMIM:616395 |
Aarskog-Scott Syndrome |
|
Downslanted palpebral fissures, Cleft upper lip, Hyperextensibility of the finger joints, Hypodon... |
OMIM:305400 |
Dyskeratosis Congenita |
|
Premature graying of hair, Taurodontia, Abnormal eyelash morphology, Thrombocytopenia, Splenomega... |
ORPHA:1775 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Mandibular prognathia, Epicanthus, Blepharophimosis, Bifid uvula, N... |
OMIM:181270 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Stomatitis, Osteolysis, Periostitis, Osteo... |
OMIM:612852 |
Cowden Syndrome 5 |
|
High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis... |
OMIM:615108 |
Lathosterolosis |
|
Thick upper lip vermilion, Epicanthus, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Gin... |
OMIM:607330 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Epicanthus, Micrognathia, Atlantoaxial dislocation, Camptodactyly, Hip dislocati... |
OMIM:252500 |
Acrofrontofacionasal Dysostosis 1 |
|
S-shaped palpebral fissures, Cleft upper lip, Mandibular prognathia, Wide mouth, Long eyebrows, O... |
OMIM:201180 |
Diamond-Blackfan Anemia 6 |
|
Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Tracheomalacia, Persistence of hemoglob... |
OMIM:612561 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia, Rickets, Failure to thrive, Corneal opacity, Portal hypertension |
ORPHA:213 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Abnormal trabecular bone morpho... |
ORPHA:2909 |
Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Epicanthus, Micrognathia, Abnormal lip morphology, Iris coloboma, Delayed skeletal... |
ORPHA:280 |
Caudal Regression Syndrome |
|
Hypertension, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Sparse eyebrow, Enamel hypoplasia, Cataract, Carious teeth, Sparse eyelashes, Ker... |
OMIM:612843 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Long philtrum, Epicanthus, Synophrys, Pulmonic stenosis, Macroglossia, Pro... |
ORPHA:488632 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Palpebral fissure narrowing on adduction, Epicanthus, Fused cervical verteb... |
OMIM:607323 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Downslanted palpebral fissures, Genu valgum, Mandibular prognathia, Epicanthus, Ptosis, Cubitus v... |
ORPHA:1778 |
Chime Syndrome |
|
Retinal coloboma, Epicanthus, Microdontia, Abnormality of dental morphology, Hypodontia, Short ph... |
ORPHA:3474 |
Myhre Syndrome |
|
Short palpebral fissure, Mandibular prognathia, Gingival cleft, Blepharophimosis, Abnormal lip mo... |
ORPHA:2588 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Hypoplasia of the iris, Abnormality of dental morphology, Telangiectasia... |
ORPHA:2092 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Cachexia, Abnormal... |
ORPHA:649 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Iris coloboma, Thin vermilio... |
OMIM:234100 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Dental crowding, Everted lower lip vermilion, Hy... |
OMIM:616367 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Widely spaced teeth, Ec... |
OMIM:135100 |
Rodrigues Blindness |
|
Tooth malposition, Microphthalmia, Sclerocornea, Microcornea |
OMIM:268320 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... |
OMIM:613673 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Opacification of the corneal stroma |
ORPHA:1643 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Epiphyseal stippling, Spinal canal ... |
ORPHA:950 |
Infant Botulism |
|
Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Ptosis, Hyponat... |
ORPHA:178478 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro... |
ORPHA:97360 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Lumbar hyperlordosis, Macroglossia, Elevated circulating creatine kinase concentrat... |
ORPHA:370959 |
Poikiloderma With Neutropenia |
|
Conjunctivitis, Sparse eyebrow, Retrognathia, Telangiectasia, Sparse lateral eyebrow, Long philtr... |
OMIM:604173 |
Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Retrognathia, Downslanted palpebral fissures, Epicanthus, Micrognathia, Anterior concavity of tho... |
OMIM:617101 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,... |
OMIM:241310 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Epicanthus, Synophrys, Micr... |
OMIM:102500 |
Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Flexion contracture, High palate, Hypoplasia of the maxilla, Ptosis, Scoliosis |
OMIM:218000 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Juvenile cataract, T... |
ORPHA:221016 |
Srd5A3-Cdg |
|
Coloboma, Optic atrophy, Kyphosis, Oligodontia, Abnormal sacrum morphology, Cataract |
ORPHA:324737 |
Sickle Cell Anemia |
|
Avascular necrosis, Elevated circulating creatinine concentration, Hemolytic anemia, Osteomyeliti... |
ORPHA:232 |
Cowden Syndrome 6 |
|
High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis... |
OMIM:615109 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal nasolacrimal system morphology, Mandibular aplasia, Micrognathia, Hypertrophic cardiomyo... |
ORPHA:2556 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Hereditary Bullous Dystrophy, Macular Type |
|
Heart murmur, Spotty hypopigmentation, Cataract, Corneal opacity, Hyperpigmentation of the skin |
ORPHA:1867 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Kabuki Syndrome |
|
Vertebral clefting, Lip pit, Coloboma, Microdontia, Butterfly vertebrae, Hip dislocation, Cleft p... |
ORPHA:2322 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short palpebral fissure, Sparse eyebrow, Retrognathia, Blepharophimosis, Micrognathia, Hypodontia... |
OMIM:613026 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Wound Botulism |
|
Ptosis, Mydriasis, Cardiac arrest |
ORPHA:178475 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Decreased body weight, Delayed eruption of teeth, Bifid uvula, Iris coloboma... |
OMIM:300166 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, Sacral dimple, Hip subluxation, High palate, Short palp... |
OMIM:615546 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Decreased body weight, Epicanthus, Hyperbilirubinemia... |
OMIM:614886 |
Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, High palate, Thin vermilion border, Smooth philtrum, Malar flatte... |
OMIM:601853 |
Kagami-Ogata Syndrome |
|
Retrognathia, Short palpebral fissure, Pulmonary arterial hypertension, Flexion contracture, Long... |
OMIM:608149 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism, Persistence of primary teeth, Overweight, Dental crowding |
OMIM:619769 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Micrognathia, Orofacial cleft, Multiple cafe-au-lait spots, Scoliosis, Telangiectasia... |
ORPHA:1556 |
Trichorhinophalangeal Syndrome, Type I |
|
Hyperlordosis, Dental malocclusion, Ivory epiphyses of the distal phalanges of the hand, Narrow p... |
OMIM:190350 |
Revesz Syndrome |
|
Megalocornea, Leukocoria, Oral leukoplakia, Fine, reticulate skin pigmentation, Aplastic anemia |
OMIM:268130 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Ptosis, Mydriasis |
ORPHA:254509 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Juvenile cataract, T... |
ORPHA:221008 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Upslanted palpebral fissure, ... |
ORPHA:250999 |
Cowden Syndrome 1 |
|
High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis... |
OMIM:158350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Upslanted palpebral fissure, Mandibular prognathia, High palate, Decreased body weight, Flexion c... |
OMIM:300534 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Opacification of the corneal stroma, Generalized bone demineralization... |
OMIM:215250 |
Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo... |
OMIM:252100 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Upslanted palpebral fissure, Mandibular prognathia, Recurrent respiratory inf... |
ORPHA:96263 |
Pycnodysostosis |
|
Spondylolysis, Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Increa... |
OMIM:265800 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Micrognathia, Delayed ossification of carpal bones, Abnormal ver... |
ORPHA:93346 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Entropion, Joint contracture of the hand, Blepharophimosis, Oligodontia, Camptod... |
OMIM:601701 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Epicanthus, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Sh... |
OMIM:164200 |
Chops Syndrome |
|
Long philtrum, Optic atrophy, Synophrys, Long eyelashes, Thick eyebrow, Cataract, Downturned corn... |
OMIM:616368 |
Vascular Ehlers-Danlos Syndrome |
|
Gingivitis, Hypoplastic lacrimal duct, Melanocytic nevus, Epicanthus, Microdontia, Abnormal oral ... |
ORPHA:286 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Optic atrophy, Synophrys, Abnormal form of the vertebral bodies, Recurrent t... |
ORPHA:581 |
Keipert Syndrome |
|
Epicanthus, Hypoplasia of the maxilla, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Downslanted palpebral fissures, Decreased body weight, Micrognathia, Acetabular dys... |
OMIM:616462 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Generalized hypopigmentation of h... |
ORPHA:238468 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol... |
ORPHA:2396 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Upslanted palpebral fissure, High palate, Epicanthus, Blepharophimosis, Micrognat... |
OMIM:244450 |
Trichinellosis |
|
Conjunctivitis, Retinal hemorrhage, Anisocoria, Abnormal uvea morphology, Trismus, Conjunctival h... |
ORPHA:863 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Camptodactyly of finger, Genu valgum, Downslanted palpebral fissures, Craniosynosto... |
ORPHA:2462 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Gingivitis, Anemia, Abnormality of skin pigmentation, Camptodactyly of finger, Fl... |
ORPHA:2908 |
Neuroocular Syndrome |
|
Lagophthalmos, Synophrys, Torus palatinus, Lens coloboma, Iris coloboma, Peters anomaly, Blue iri... |
OMIM:619539 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Delayed skelet... |
ORPHA:2273 |
Bartsocas-Papas Syndrome 1 |
|
Flexion contracture, Micrognathia, Short neck, Cleft palate, Corneal ulceration, Arthrogryposis m... |
OMIM:263650 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnormal form of t... |
ORPHA:1106 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Cryptophthalmos, Abnormality of skin pigmentation, Corneal erosion, Wide... |
ORPHA:920 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Genu valgum, Downslanted palpebral fissures, High palate, Narrow palate, Joi... |
OMIM:182212 |
Marshall-Smith Syndrome |
|
Irregular dentition, Decreased body weight, Microdontia, Atlantoaxial dislocation, Synophrys, Opt... |
OMIM:602535 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the frontal bone, Epicanthus, Hypoplasia o... |
ORPHA:306542 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Corneal opacity |
ORPHA:281090 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Sparse eyebrow, Absent lacrimal punctum, Micro... |
OMIM:129400 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Blepharospasm, Narrow palate, Optic atrophy, Epica... |
ORPHA:794 |
Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Synophrys, Bifid uvula, Short neck, Telecanthus, Abnormality of the vert... |
ORPHA:1299 |
Neurooculocardiogenitourinary Syndrome |
|
Coloboma, Epicanthus, Downturned corners of mouth, Peters anomaly, Microphthalmia, Smooth philtru... |
OMIM:618652 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Coloboma, Micrognathia, Microphthalmia, Osteopetrosis, Shallow orbits |
OMIM:617306 |
Osteogenesis Imperfecta |
|
Flexion contracture, Delayed eruption of teeth, Micrognathia, Dislocated radial head, Thrombocyto... |
ORPHA:666 |
Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Short palpebral fissure, Sparse eyebrow, High palate, Long philtrum, Joint contract... |
OMIM:608156 |
Fryns Syndrome |
|
Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Micrognathia, Median cleft lip, Te... |
ORPHA:2059 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, High palate, Wide mouth, Epicanthus, Small for gestational age, Hyp... |
OMIM:251300 |
Stromme Syndrome |
|
Wide mouth, Micrognathia, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, Cat... |
OMIM:243605 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Short philtrum, Ptosis, Downturned corners of mouth, Anisocoria |
OMIM:615510 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, High palate, Coloboma, Upper lip pit, Deep philtrum, Microdontia, Microcor... |
ORPHA:1297 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Micrognathia, Hip dislocation, Scolio... |
ORPHA:3320 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma, Wormian bones, Platyspondyly |
OMIM:601356 |
X-Linked Intellectual Disability, Porteous Type |
|
Short philtrum, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla |
ORPHA:93945 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Knee flexion contracture, Abnormal eyebrow morphology, High palate, Joint contract... |
OMIM:600920 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Long philtrum, Micrognathia, Synophrys, Keratoconjunctivitis sicca, Tented philtr... |
ORPHA:495875 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Mandibular prognathia, Genu valgum, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pa... |
OMIM:259710 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Frontofacionasal Dysplasia |
|
S-shaped palpebral fissures, Cleft upper lip, Hypoplasia of the frontal bone, Blepharophimosis, A... |
OMIM:229400 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Radioulnar synostosis, Coloboma |
OMIM:302905 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion |
ORPHA:411777 |
Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Microdontia, Corneal opacity |
ORPHA:1765 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Neuropathic spinal arthropathy, Tongue fasciculat... |
ORPHA:99949 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Thin bony cortex, Increased intervertebral space, Long philtrum, Mydri... |
OMIM:619727 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Corneal arcus, Reduced haptoglobin level, Arthritis... |
OMIM:210250 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Vertebral fusion, Cleft upper lip, Mandi... |
ORPHA:373 |
Mosaic Variegated Aneuploidy Syndrome |
|
Downslanted palpebral fissures, Abnormality of skin pigmentation, Epicanthus, Micrognathia, Acute... |
ORPHA:1052 |
Foodborne Botulism |
|
Ptosis, Mydriasis, Arrhythmia |
ORPHA:228371 |
Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip, Coloboma |
OMIM:600251 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Joint laxity, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia, Cleft palate |
OMIM:610125 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
Mosaic Trisomy 1 |
|
Short upper lip, Camptodactyly of finger, Downslanted palpebral fissures, Wide mouth, Thick lower... |
ORPHA:1692 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Delayed closure of the anterior fontanelle, High palate, Long philtrum, Wide m... |
OMIM:607812 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... |
OMIM:609049 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Hypoplasia of the maxilla, Ptosis, Failure to thrive, Cleft palate |
OMIM:614261 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, High palate, Epicanthus, Micrognathia, Epiphyseal stippling, Macroglossia, Elev... |
OMIM:214100 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Iris coloboma, Delayed skeletal maturation, Smooth phi... |
OMIM:613406 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Angina pectoris, Hypertrophic cardiomyopathy, Hyperlipi... |
ORPHA:324 |
Distal Xq28 Microduplication Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, High palate, Cafe-au-lait spot, Short lingual frenulum, Thick ... |
ORPHA:293939 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Upslanted palpebral... |
ORPHA:79113 |
Dubowitz Syndrome |
|
Epicanthus, Delayed eruption of teeth, Micrognathia, Acute lymphoblastic leukemia, Iris coloboma,... |
OMIM:223370 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Downslanted palpebral fissures, Coloboma, Wide mouth, Bilateral ptosis, Synophrys, Long eyelashes... |
ORPHA:329224 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Papilledema, Gingival overgrowth, Re... |
ORPHA:217085 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Optic atrophy, Epicanthus, Keratoconjunctivitis sicca, Microcornea, Microphthalmia,... |
OMIM:234050 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum |
ORPHA:289483 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Epicanthus, Delayed eruption of teeth, Broad eyebrow, Bifid uvula,... |
ORPHA:261552 |
Acro-Renal-Mandibular Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Microgna... |
ORPHA:958 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand |
ORPHA:90658 |
Acrofacial Dysostosis, Catania Type |
|
Downslanted palpebral fissures, Microretrognathia, Spina bifida occulta, Abnormal palate morpholo... |
ORPHA:1786 |
Pfeiffer Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, High palate, Humeroradial synostosis, Coro... |
OMIM:101600 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Papilledema, Gingival overgrowth, Re... |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
|
Recurrent ear infections, Cardiomyopathy, Flexion contracture of digit, Contractures of the large... |
ORPHA:580 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Microphthalmia... |
OMIM:613001 |
Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Congenital giant melanocytic nevus, Prominence of the premaxilla, E... |
OMIM:137550 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Recurrent bacterial skin infections, Sparse eyebrow, Corneal scarring, ... |
OMIM:148210 |
Pseudo-Torch Syndrome 1 |
|
High palate, Long philtrum, Microretrognathia, Failure to thrive, Cataract, Thrombocytopenia, Cle... |
OMIM:251290 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Microdontia, Cataract, Carious teeth, Abnormality of dental color, Abnorma... |
ORPHA:231178 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Micrognathia, Microdontia, Osteochondritis dissecans, Camptodactyly, Elbow d... |
OMIM:224690 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Micrognathia, Hypoplasia of the zygomatic bone, Malar flattening,... |
OMIM:248390 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Fused cervical vertebrae, Submucous cleft hard palate, Butterfly vertebrae, Spina b... |
OMIM:619227 |
Ritscher-Schinzel Syndrome 1 |
|
Downslanted palpebral fissures, Coloboma, Micrognathia, Aortic valve stenosis, Cleft palate, Hemi... |
OMIM:220210 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Patellar hypoplasia, Long philtrum, Dacryocystitis, Coloboma, Short neck, Thin verm... |
ORPHA:464288 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Abnormality of the wrist, Microretrognathia, Hypoplasia of the maxilla,... |
ORPHA:1307 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Micrognathia, Epiphyseal stippling, Camptodactyly, Hepatosplenomegaly, Cleft palate, ... |
OMIM:614866 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Telangiectasia, Hypertension |
OMIM:219250 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Microphthalmia, Choriore... |
OMIM:212550 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Cataract, Protruding tongue,... |
ORPHA:93400 |
Xeroderma Pigmentosum |
|
Telangiectasia, Melanocytic nevus, Entropion, Ankyloblepharon, Pterygium, Craniofacial hyperostos... |
ORPHA:910 |
Williams Syndrome |
|
Sudden cardiac death, Abnormal circulating lipid concentration, Patellar dislocation, Epicanthus,... |
ORPHA:904 |
Apert Syndrome |
|
Delayed cranial suture closure, Dental malocclusion, Sagittal craniosynostosis, Mandibular progna... |
OMIM:101200 |
Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Optic atrophy, Epicanthus, Micrognathia, Hip dislocation, Iris coloboma, Short neck... |
ORPHA:818 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Epicanthus, Micrognathia, Short neck, Thrombocytopenia... |
ORPHA:124 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Camptodactyly of finger, High palate |
ORPHA:85279 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Ocular albinism, Epicanthus, Fair hair, Hepatosplenomegaly, Smo... |
OMIM:608233 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Ptosis, Abnormal palate morphology, Mandibular prognathia |
ORPHA:1540 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd... |
ORPHA:137675 |
Holoprosencephaly |
|
Optic atrophy, Epicanthus, Synophrys, Median cleft lip, Iris coloboma, Short neck, Tooth agenesis... |
ORPHA:2162 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis... |
OMIM:259770 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Elbow flexion contracture, Camptodactyly, Short neck, Ovoid vertebral bodies, Smoot... |
OMIM:601559 |
Multiple Sulfatase Deficiency |
|
Retinal degeneration, Corneal opacity, Hypoplastic vertebral bodies |
OMIM:272200 |
Gaucher Disease |
|
Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Thrombocytopenia, Arthro... |
ORPHA:355 |
Ramos-Arroyo Syndrome |
|
Dacryocystitis, Decreased body weight, Long philtrum, Choriocapillaris atrophy, Narrow palpebral ... |
ORPHA:1051 |
Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Splenomegaly, Developmental cataract, Limitation of... |
OMIM:133540 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Flexion contracture, Corneal opacity |
OMIM:614594 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger joints, Microgn... |
OMIM:309520 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Kyphosis, Small for gestational age, Aortic regurgitation, Ast... |
ORPHA:464311 |
Neurofibromatosis Type 1 |
|
Melanocytic nevus, Generalized hyperpigmentation, Freckling, Multiple cafe-au-lait spots, Genu va... |
ORPHA:636 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Irregular hyperpigmentation, Abnormal pigmentation of the or... |
ORPHA:2907 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae |
OMIM:271520 |
Porphyria, Congenital Erythropoietic |
|
Conjunctivitis, Hypopigmentation of the skin, Hemolytic anemia, Joint contracture of the hand, Co... |
OMIM:263700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Micrognathia, Synophrys, Thick eyebrow, Glossoptosis, Abnormal vertebral morphol... |
ORPHA:444077 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Synophrys, Sh... |
OMIM:613458 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Giant cell granuloma of mandible, Limbal dermoid, Microcor... |
OMIM:600268 |
Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, High palate, Generalized joint laxity, Limited elbow movement, Limitation of knee m... |
ORPHA:319171 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Carpenter Syndrome |
|
Genu valgum, Kyphoscoliosis, Abnormal cornea morphology, Obesity, Craniosynostosis |
ORPHA:65759 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Mowat-Wilson Syndrome |
|
Downslanted palpebral fissures, Delayed eruption of teeth, Widely spaced teeth, Broad eyebrow, Su... |
OMIM:235730 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Genu valgum, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral f... |
OMIM:619142 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Pterygium, Pancytopenia, Hyperpigmentation of the skin, Carious teeth, Oral leukopla... |
OMIM:224230 |
Hypophosphatasia, Adult |
|
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Premature ... |
OMIM:146300 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Flexion contracture, Patellar dislocation, Coloboma, Epicanthus, ... |
OMIM:180849 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Scoliosis, Platyspondyly, Carious teeth, Osteoporosis |
OMIM:126550 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Micrognathia, Fused cervical vertebra... |
OMIM:274000 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Long philtrum, Wide mouth, Epicanthus, Fused cervical vertebrae, C... |
OMIM:157800 |
Craniofacial Microsomia |
|
Transverse facial cleft, Cleft upper lip, Genu valgum, Vertebral hypoplasia, Wide mouth, Block ve... |
OMIM:164210 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukocoria, Subretinal pigment epithelium hemorrhage, Abnormality of retinal... |
ORPHA:790 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Coloboma, Micrognathia, Microdontia, Short neck, Cleft palat... |
ORPHA:251028 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Wide mouth, Macroglossia, Everted lower lip vermilion, Short neck, Recurrent infections... |
OMIM:616789 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Reduced alpha/beta synthesis ratio, Epicanthus, Thick lower lip vermilion,... |
OMIM:301040 |
Joubert Syndrome 14 |
|
Downslanted palpebral fissures, Coloboma, Optic atrophy, Epicanthus, Short philtrum, Intracranial... |
OMIM:614424 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Splenomegaly, Abnormality... |
ORPHA:231222 |
Tangier Disease |
|
Anemia, Hepatosplenomegaly, Corneal opacity, Ectropion, Hypocholesterolemia, Thrombocytopenia, Hy... |
ORPHA:31150 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Hyperpigmentation of the skin |
OMIM:231550 |
Pituitary Apoplexy |
|
Hypotension, Mydriasis, Hypertension, Ptosis, Hyponatremia, Normochromic anemia |
ORPHA:95613 |
Neurofaciodigitorenal Syndrome |
|
Downslanted palpebral fissures, Abnormality of the philtrum, Mandibular prognathia, Abnormality o... |
ORPHA:2673 |
Neurocardiofaciodigital Syndrome |
|
Retrognathia, Sparse eyebrow, High palate, Small for gestational age, Narrow palpebral fissure, F... |
OMIM:619869 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Delayed eruption of primary teeth, Delayed ossification of carpal bones, Supernumera... |
OMIM:620099 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Downslanted palpebral fissures, Mandibular prognathia, Downturned corners of mouth, N... |
ORPHA:1110 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Irregular hyperpigmentation, Decreased body weight, Corneal erosion, Flexion contracture,... |
ORPHA:89842 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Recurrent sinusitis, Lymphopenia, Squamous cell carcinoma of the tongue, Persistence of h... |
OMIM:618849 |
Thakker-Donnai Syndrome |
|
Long palpebral fissure, Downturned corners of mouth, Narrow mouth, Short neck, Upslanted palpebra... |
ORPHA:1780 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Osteolysis, Thrombocytopenia, Corneal ulceratio... |
ORPHA:79277 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Microdontia, Atlantoaxial dislocation, Congenital kyph... |
ORPHA:536467 |
Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Downslanted palpebral fissures, Long phi... |
ORPHA:83 |
Frontometaphyseal Dysplasia 2 |
|
Downslanted palpebral fissures, Pierre-Robin sequence, High palate, Deep philtrum, Hip contractur... |
OMIM:617137 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Kyphosis, Hype... |
ORPHA:2769 |
Neonatal Marfan Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Flexion contracture, Heart murmur, Small for gestat... |
ORPHA:284979 |
Tyrosinemia Type 2 |
|
Malar flattening, Corneal opacity |
ORPHA:28378 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Synophrys, Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Joint stiffne... |
ORPHA:1295 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy, Failure to thrive, Cataract, Microphthalmia |
OMIM:612379 |
Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Angina pectoris, Decreased HDL cholesterol concentratio... |
ORPHA:425 |
Zttk Syndrome |
|
Flexion contracture, Optic atrophy, Epicanthus, Broad eyebrow, Bifid uvula, Narrow mouth, Hemiver... |
OMIM:617140 |
Cardiofaciocutaneous Syndrome |
|
Downslanted palpebral fissures, Genu valgum, Aplasia/Hypoplasia of the eyebrow, High palate, Long... |
ORPHA:1340 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Fused cervical vertebrae, Micrognathia, Elbow dislocation, Knee dislocation... |
OMIM:108720 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormality of the cervical spine, Multiple joint contractures, Kyphosis, Small for gestational a... |
ORPHA:464306 |
Hepatoerythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Hypopigmentation of the skin, Hemolyt... |
ORPHA:95159 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, High palate, Sparse lateral eyebrow, Joint contracture of the hand, Epican... |
OMIM:309500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of th... |
OMIM:614643 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hyperphosphatemia, Calcinosis, Pulp c... |
OMIM:211900 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Epicanthus, Blepharophimosis, Micrognathia, Caudal appendage, Camptodactyly,... |
ORPHA:314679 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Anemia, Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosc... |
ORPHA:93325 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Hip dislocation, Joint laxity, Developmental cataract, Congestive... |
ORPHA:90348 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia, Lip discoloration |
ORPHA:621 |
Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Decreased body weight, Elevated circulating alpha-fetoprotein concentration, Pto... |
OMIM:615273 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Downslanted palpebral fissures, Upslanted palpebral fissure, High palate, Coloboma, Optic atrophy... |
OMIM:616975 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Lagophthalmos, Optic atrophy, Synophrys, Hypoplastic vertebral bodies, S... |
ORPHA:3455 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Neuropathic arthropathy, Osteomyelitis, Corneal scarring, Keratitis, Opacification of the corneal... |
OMIM:256800 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis, Flat cornea, Phthisis bulbi |
OMIM:618283 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Mydriasis, Thin eyebrow, Failure to thrive, Downturned corners of mouth, Cardiac... |
ORPHA:2131 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Long philtrum, Optic atrophy, Epicanthus, Short neck, Delayed skeletal maturation, Hypoplasia of ... |
OMIM:614800 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Failure to ... |
OMIM:613804 |
X-Linked Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High palate, Epicanthus, Micro... |
ORPHA:1131 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Yunis-Varon Syndrome |
|
Micrognathia, Hip dislocation, Absent sternal ossification, Sparse eyelashes, Glossoptosis, Short... |
ORPHA:3472 |
Meier-Gorlin Syndrome 3 |
|
Downslanted palpebral fissures, Genu varum, Patellar hypoplasia, Patellar aplasia, Micrognathia, ... |
OMIM:613803 |
Treacher Collins Syndrome 2 |
|
Retrognathia, Fusion of middle ear ossicles, Downslanted palpebral fissures, Micrognathia, Micror... |
OMIM:613717 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein, Dense posteri... |
OMIM:309000 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Recurrent otitis media |
ORPHA:99772 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Coloboma, Bilateral cleft lip, Bilateral cleft palate, Scoliosis |
OMIM:601357 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Lacrimal duct stenosis, Sparse eyebrow, Cleft upper lip, Dacryocystitis, Hypoplastic sacrum, Gene... |
OMIM:604292 |
Arachnoid Cyst |
|
Back pain, Mydriasis, Lower limb pain, Ptosis, Subarachnoid hemorrhage, Sciatica |
ORPHA:2356 |
Botulism |
|
Mydriasis, Arrhythmia |
ORPHA:1267 |
Barber-Say Syndrome |
|
Sparse eyebrow, Dental malocclusion, Mandibular prognathia, High palate, Epiblepharon, Wide mouth... |
OMIM:209885 |
Holoprosencephaly 2 |
|
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... |
OMIM:157170 |
Cockayne Syndrome A |
|
Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ... |
OMIM:216400 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palpebral fissure, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus,... |
OMIM:616734 |
Phace Syndrome |
|
Abnormality of the orbital region, Lens coloboma, Ptosis, Iris coloboma, Heterochromia iridis, Ca... |
ORPHA:42775 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Delayed eruption of teeth, Small for gestational age, Hyperte... |
ORPHA:330015 |
Peters Plus Syndrome |
|
Optic atrophy, Micrognathia, Spina bifida occulta, Iris coloboma, Peters anomaly, Short neck, Cle... |
ORPHA:709 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:79138 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Patellar aplasia, Micrognathia, Submucous cleft hard palate, Elbow dislocation, Hy... |
OMIM:613805 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Decreased body weight, Hip disl... |
OMIM:182250 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar... |
OMIM:309801 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Downslanted palpebral fissures, Narrow palate, Optic atrophy, Hypertension, Ptosis, Narrow mouth,... |
ORPHA:1555 |
Peters-Plus Syndrome |
|
Decreased body weight, Short lingual frenulum, Micrognathia, Iris coloboma, Peters anomaly, Short... |
OMIM:261540 |
Toluene Embryopathy |
|
Short palpebral fissure, Epicanthus, Micrognathia, Smooth philtrum, Hypoplasia of the zygomatic b... |
ORPHA:1920 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Coloboma, Synophrys, Cataract, Micr... |
OMIM:603457 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Prolidase Deficiency |
|
Genu valgum, Micrognathia, Abnormality of retinal pigmentation, Hypoplasia of the zygomatic bone,... |
ORPHA:742 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Downslanted palpebral fissures, Mandibular prognathia, Epicanthus, Short philtrum,... |
OMIM:613603 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Downslanted palpebral fissures, B lymphocytopenia, Epicanthus, Blepharophimosis, Mi... |
ORPHA:83617 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Cleft upper lip, Dacryocystitis, Generalized hypopigmentation, Selective tooth ag... |
OMIM:129900 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Epicanthus, Thick lower lip vermilion, Macroglossia, Everted lower l... |
ORPHA:847 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Hepatosplenomegaly |
OMIM:256540 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid ... |
ORPHA:1812 |
Primrose Syndrome |
|
Flexion contracture, Epicanthus, Synophrys, Torus palatinus, Elevated circulating alpha-fetoprote... |
OMIM:259050 |
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 |
Roberts-Sc Phocomelia Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, Downslanted palpebral fissu... |
OMIM:268300 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
Wilson Disease |
|
Anemia, Chondrocalcinosis, Hemolytic anemia, Osteomalacia, Decreased circulating ceruloplasmin co... |
OMIM:277900 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Optic atrophy, Epicanthus, Coloboma, Bifid uvula, Abnormal oral fren... |
OMIM:200990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, R... |
OMIM:253280 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia... |
ORPHA:90068 |
Superficial Siderosis |
|
Anisocoria, Back pain, Subarachnoid hemorrhage, Internal hemorrhage |
ORPHA:247245 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Anemia, Spontaneous, recurrent epistaxis, Cachexia, Pancytopenia... |
ORPHA:2072 |
Bohring-Opitz Syndrome |
|
Retrognathia, Joint dislocation, Coloboma, Optic atrophy, Ulnar deviation of the wrist, Micrognat... |
ORPHA:97297 |
Serotonin Syndrome |
|
Hypotension, Tachycardia, Hypertension, Mydriasis |
ORPHA:43116 |
Fraser Syndrome 1 |
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Difficulty in tongue movements, Cleft upper lip, Cryptophthalmos, Dental malocclusion, Absent eye... |
OMIM:219000 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Orofaciodigital Syndrome Type 1 |
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Lip pit, Epicanthus, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, Telecant... |
ORPHA:2750 |
Cockayne Syndrome |
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Abnormal number of teeth, Optic atrophy, Retinal atrophy, Keratoconjunctivitis sicca, Cachexia, B... |
ORPHA:191 |
Aortic Aneurysm, Familial Thoracic 6 |
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Iris flocculi |
OMIM:611788 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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High palate, Coloboma, Vertebral segmentation defect, Oligodontia, Bifid uvula, Macroglossia, Pro... |
ORPHA:453499 |
Saethre-Chotzen Syndrome |
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Delayed cranial suture closure, Abnormal nasolacrimal system morphology, Narrow palate, Coronal c... |
OMIM:101400 |
Scorpion Envenomation |
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Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment... |
ORPHA:466677 |
Greenberg Dysplasia |
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Retrognathia, Absent or minimally ossified vertebral bodies, Horizontal sacrum, Recurrent fractur... |
OMIM:215140 |
Limb Body Wall Complex |
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Progressive congenital scoliosis, Spina bifida occulta, Lens subluxation, Iris coloboma, Abnormal... |
ORPHA:2369 |
Camurati-Engelmann Disease |
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Anemia, Mandibular prognathia, Genu valgum, Lower limb pain, Increased bone mineral density, Cort... |
OMIM:131300 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Small for gestationa... |
OMIM:260400 |
Meckel Syndrome |
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Asplenia, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the iris, Micrognathia, Abnorma... |
ORPHA:564 |
Ear-Patella-Short Stature Syndrome |
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Retrognathia, Camptodactyly of finger, Mandibular aplasia, Patellar aplasia, Craniosynostosis, Mi... |
ORPHA:2554 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets, Retinal pigment epithelial mottling, Corneal crystals |
OMIM:219900 |
Digeorge Syndrome |
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Short palpebral fissure, High palate, Posterior embryotoxon, Patellar dislocation, Blepharophimos... |
OMIM:188400 |
Retinoblastoma |
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Leukocoria, Cleft palate, Vitreous hemorrhage, Leukemia |
OMIM:180200 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Retrognathia, Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regur... |
ORPHA:91387 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Conical tooth, Sparse eyebrow, Everted upper lip vermilion, Absent eyelashes, Microdontia, Hypodo... |
OMIM:305100 |
Craniofacial-Deafness-Hand Syndrome |
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Hypoplasia of the maxilla, Downslanted palpebral fissures, Malar flattening, Telecanthus |
OMIM:122880 |
Charge Syndrome |
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Cleft upper lip, Optic atrophy, Delayed eruption of teeth, Epicanthus, Abnormal soft palate morph... |
ORPHA:138 |
Autoimmune Polyendocrinopathy Type 1 |
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Cataract, Opacification of the corneal stroma, Hypopigmented skin patches |
ORPHA:3453 |
Late-Onset Retinal Degeneration |
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Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Ischemic stroke, Optic atrophy, Epicanthus, Bifid uvula, Optic nerve hypoplasia, Submucous cleft ... |
ORPHA:500150 |
Infantile Nephropathic Cystinosis |
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Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion concentration, Rickets, Failu... |
ORPHA:411629 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Flexion contracture, Epicanthus, Micrognathia, Epiphyseal stippling, Camptodactyly, Hypertrophic ... |
ORPHA:96334 |
Kindler Syndrome |
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Gingivitis, Corneal erosion, Periodontitis, Spotty hypopigmentation, Symblepharon, Spotty hyperpi... |
OMIM:173650 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Vitreous hemorrhage, Reduced hematocrit, Weight loss, Anterior chamber flare, Posterior synechiae... |
ORPHA:91500 |
Fryns Syndrome |
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Cleft upper lip, Long philtrum, Wide mouth, Joint contracture of the hand, Blepharophimosis, Poly... |
OMIM:229850 |
Collagenoma, Familial Cutaneous |
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Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Microphthalmia, Syndromic 6 |
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Retrognathia, High palate, Coloboma, Micrognathia, Bifid uvula, Microcornea, Failure to thrive, M... |
OMIM:607932 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
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Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Holoprosencephaly 7 |
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Hypoplasia of the premaxilla, Bilateral cleft lip, Synophrys, Median cleft lip and palate, Median... |
OMIM:610828 |
Distal Monosomy 19P13.3 |
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Short philtrum, Hypoplasia of the maxilla, Joint hyperflexibility, Cleft palate, Thick eyebrow |
ORPHA:96129 |
Holoprosencephaly 9 |
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Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Short ph... |
OMIM:610829 |
Classical Ehlers-Danlos Syndrome |
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Shoulder dislocation, Patellar dislocation, Epicanthus, Pulp calcification, Hip dislocation, Disl... |
ORPHA:287 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
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Hypoplasia of the zygomatic bone, Malar flattening |
ORPHA:2835 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Camptodactyly of finger, Flexion contracture, Premature graying of hair, Elbow flexion contractur... |
OMIM:256040 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Patellar dislocation, Coloboma, Delayed skeletal maturation, Talon cusp, Narrow palate, Avascular... |
ORPHA:353281 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Coloboma, Cleft soft palate, Micrognathia, Ptosis |
OMIM:606851 |
Dyskeratosis Congenita, X-Linked |
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Conjunctivitis, Acute myeloid leukemia, Leukopenia, Anemia, Premature graying of hair, Pterygium,... |
OMIM:305000 |
Floating-Harbor Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Wide mouth, Small for gestational age, Micro... |
ORPHA:2044 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Mydriasis |
OMIM:613834 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Synophrys, Micrognathia, Hip dislocation, Elbow dislocation, Short nec... |
ORPHA:199 |
Solitary Median Maxillary Central Incisor |
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Cleft upper lip, Coloboma, Prominent median palatal raphe, Torus palatinus, Solitary median maxil... |
OMIM:147250 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Patellar dislocation, Coloboma, Micrognathia, Talon cusp, Narrow palate, Avascular necrosis of th... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Patellar dislocation, Coloboma, Micrognathia, Talon cusp, Narrow palate, Avascular necrosis of th... |
ORPHA:353277 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Coloboma, Synophrys, Broad eyebrow, Iris coloboma, Juvenile cataract, Smoo... |
OMIM:619475 |
Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, Narrow palate, High palate... |
OMIM:614188 |
Yunis-Varon Syndrome |
|
Epicanthus, Micrognathia, Hypoplastic facial bones, Hip dislocation, Absent sternal ossification,... |
OMIM:216340 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplastic lacrimal duct, Microdontia, Conical incisor, Recurrent corneal erosions, Telecanthus,... |
OMIM:149730 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Downslanted palpebral fissures, High palate, Pulmonary insufficiency, Micrognathia, Prominence of... |
OMIM:614437 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Plague |
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Hypotension, Splenomegaly, Abnormality of the elbow, Mydriasis, Arthritis, Glossitis, Chapped lip... |
ORPHA:707 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Eunuchoid habitus |
ORPHA:3044 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Mitral stenosis, Block vertebrae, Congenital hip dislocation, Failure to t... |
OMIM:306955 |
Thymoma |
|
Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu... |
ORPHA:99867 |
Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Reduced blood urea nitrogen, Hypopigmentation of the skin, Genu valgum, W... |
OMIM:219800 |
Acromelic Frontonasal Dysostosis |
|
Downslanted palpebral fissures, Cleft upper lip, Patellar hypoplasia, Optic nerve hypoplasia, Pto... |
OMIM:603671 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypovolemia, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thr... |
ORPHA:411634 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Mydriasis |
OMIM:619351 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ptosis, Iris atrophy |
OMIM:146500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Genu varum, Anterior wedging of T11, Kyphosis, Hypoplasia of the odontoid process, Flat acetabula... |
OMIM:300106 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle, Intrauterine growth retardation |
OMIM:227645 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Coloboma, Hypovolemia, Failure to thrive, Cataract, Band keratopathy, ... |
ORPHA:47159 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Abnormality of the knee, Osteomalacia, Trans... |
ORPHA:51608 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Hypodontia, Micrognathia, Narrow mouth, Hypoplasia... |
ORPHA:989 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma, Splenomegaly, Pancytopenia |
OMIM:231005 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Opacification ... |
ORPHA:79280 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla |
ORPHA:2975 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Charge Syndrome |
|
Downslanted palpebral fissures, Cleft upper lip, Coloboma, Retinal coloboma, Micrognathia, Unilat... |
OMIM:214800 |
Ablepharon-Macrostomia Syndrome |
|
Short upper lip, Cryptophthalmos, Wide mouth, Absent eyelashes, Camptodactyly, Ablepharon, Absent... |
OMIM:200110 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Retinal hamartoma, Remnants of the hyaloid vascular system, Corti... |
ORPHA:637 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Long philtrum, Epicanthus, Small for gestational age, Hypoplasia of the zygomatic bone |
OMIM:618500 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoplasia of the zygomatic bone, Solitary median maxillary central incisor, Small for gestationa... |
ORPHA:556955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration |
OMIM:615287 |