Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
Abruzzo-Erickson Syndrome |
|
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Microcorne... |
ORPHA:921 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma, Cleft palate |
OMIM:120433 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Vitreoretinopathy, Keratan sulfate excretion in urine, Short neck, Enl... |
ORPHA:485 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Multiple joint contractures... |
OMIM:300244 |
Hypomelanosis Of Ito |
|
Kyphosis, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Macular hypopigmented whorls... |
OMIM:300337 |
Kahrizi Syndrome |
|
Knee flexion contracture, Thoracic kyphosis, Elbow contracture, Cataract, Iris coloboma, Thick ve... |
OMIM:612713 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Hematuria, Cataract, Iris coloboma, Corneal opacity, Chorio... |
ORPHA:1473 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Genu ... |
ORPHA:2712 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters ano... |
OMIM:610023 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Temtamy Syndrome |
|
Short toe, Genu varum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Iris coloboma, ... |
ORPHA:1777 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormality of the vertebral column, ... |
ORPHA:294975 |
Cat-Eye Syndrome |
|
Hip dysplasia, Anal atresia, Iris coloboma, Chorioretinal coloboma, Abnormal rib morphology, Hydr... |
ORPHA:195 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitation of joint m... |
ORPHA:3265 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmen... |
OMIM:244600 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... |
OMIM:305620 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... |
ORPHA:3269 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Abnormal sacrum morphology, Scoli... |
ORPHA:1436 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Brachydactyly, Iris coloboma, Cataract,... |
ORPHA:2377 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... |
OMIM:601706 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Short metacarpal, Toe syndactyly, Iris coloboma, Abnormal cornea morphology, Catarac... |
ORPHA:2611 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, ... |
ORPHA:88630 |
Biemond Syndrome Ii |
|
Iris coloboma, Preaxial hand polydactyly |
OMIM:210350 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... |
OMIM:607323 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Short 1st metacarpal, Ectopic ossification in ligament tissue,... |
OMIM:135100 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Progressive intervertebral space narrowing, Abnormality of ... |
ORPHA:1716 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Microcorn... |
OMIM:151200 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Metaphyseal striations, Bone spicule p... |
OMIM:618889 |
Bresek Syndrome |
|
Vesicoureteral reflux, Aganglionic megacolon, Optic nerve hypoplasia, Iris coloboma, Renal hypopl... |
ORPHA:85284 |
Joint Laxity, Short Stature, And Myopia |
|
Multiple joint dislocation, Cervical kyphosis, Joint hypermobility, Iris coloboma, Kyphoscoliosis... |
OMIM:617662 |
Renpenning Syndrome |
|
Clinodactyly of the 5th finger, Short philtrum, Anal atresia, Abnormal thumb morphology, Iris col... |
ORPHA:3242 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Microcornea, Iris coloboma, Kyphoscoliosis, Chorioretinal coloboma |
OMIM:300915 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Clinodactyly, Iris coloboma, Tooth agenesis, Osteopenia, Ectrodactyly, Micropeni... |
OMIM:147950 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 ve... |
OMIM:214300 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Wrist flexion contracture, Short phalanx of finger, Camptodactyly of finger, Elb... |
ORPHA:1826 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusio... |
ORPHA:2345 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Epiphyseal stippling, High palate, Death in infancy |
OMIM:614882 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract,... |
ORPHA:3156 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Coloboma, Long philtrum, Clinodactyly, Hip dislocation, Renal... |
OMIM:615583 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Iris coloboma, ... |
ORPHA:2839 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Rod-cone dystrophy, Macular dystrophy, Syndactyly, Brachydactyly, Micropenis |
OMIM:615983 |
Trisomy 13 |
|
Optic atrophy, Aplasia/Hypoplasia of the iris, Median cleft lip, Iris coloboma, Abnormality of th... |
ORPHA:3378 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Brachydactyly, R... |
OMIM:615995 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Optic d... |
ORPHA:959 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Rod-cone dystrophy, Retinal dystrophy, Renal cyst, Renal insufficiency |
OMIM:615987 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Abnormality ... |
ORPHA:2522 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Hypopigmented ski... |
ORPHA:1553 |
Gorlin Syndrome |
|
Palmar pits, Arachnodactyly, Vertebral fusion, Melanocytic nevus, Vertebral wedging, Iris colobom... |
ORPHA:377 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Coloboma, Bullet-shaped distal phalanx of the hallux, To... |
ORPHA:1617 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal ... |
OMIM:615990 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida... |
OMIM:169550 |
Congenital Disorder Of Glycosylation, Type Id |
|
Flexion contracture, High palate, Joint contracture of the hand, Villous atrophy, Optic atrophy, ... |
OMIM:601110 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridg... |
OMIM:309620 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Complete duplication of thumb phalanx, Finger syndactyly,... |
ORPHA:568 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... |
OMIM:244300 |
Zika Virus Disease |
|
Wrist swelling, Conjunctivitis, Arthritis, Retinal pigment epithelial mottling, Abnormal optic di... |
ORPHA:448237 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Abn... |
OMIM:118100 |
Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Lens subluxation, Short neck, Pseudopapilledema |
ORPHA:3456 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency, Rod-cone dystrophy |
OMIM:615991 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Retinal dystrophy, Microcornea, Postaxial foot polydactyly, Iris ... |
ORPHA:139471 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Ocular anterior segment dysgenesis, Hip dysplasia, Hypoplasia of penis, Iris coloboma, Short neck... |
OMIM:601427 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Preaxial hand polydactyly, Multicystic kidney dysplasia, Coloboma, Upper l... |
ORPHA:1297 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Retinal detachment, Irregul... |
ORPHA:1856 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Abnormal vertebr... |
ORPHA:66637 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Accessory oral frenul... |
OMIM:617927 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Chorioretinal coloboma, Orofacial cleft |
OMIM:611638 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic platyspondyly, Ab... |
ORPHA:166011 |
Mulibrey Nanism |
|
Dental malocclusion, Enamel hypoplasia, Hypodontia, Thickened cortex of long bones, Astigmatism, ... |
OMIM:253250 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Acetabular dysplasia, E... |
OMIM:616549 |
Triploidy |
|
Non-midline cleft lip, Finger syndactyly, Wide mouth, Hypoplasia of penis, Macroglossia, Intestin... |
ORPHA:3376 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia, Missing ribs, Anal atresia, M... |
ORPHA:3301 |
3C Syndrome |
|
Ectopic anus, Optic atrophy, Iris coloboma, Short neck, Cleft palate, Orofacial cleft, Hand polyd... |
ORPHA:7 |
Cofs Syndrome |
|
Camptodactyly of finger, Optic atrophy, Death in infancy, Abnormality of retinal pigmentation, Ev... |
ORPHA:1466 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Renal cyst, Syndactyly, Brachydactyly, Abn... |
OMIM:615982 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Coloboma, Abnormal optic disc morphology, Hip dislocation, ... |
ORPHA:508498 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Aniridia, Iris co... |
ORPHA:251038 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Ra... |
ORPHA:436003 |
Temtamy Syndrome |
|
Long philtrum, Lens luxation, Hip dislocation, Ectopia lentis, Iris coloboma, Short 2nd toe, Chor... |
OMIM:218340 |
Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Retinal vascular tortuosity, Microcornea, Intestinal malrotation, Op... |
OMIM:243605 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, A... |
OMIM:615986 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Distal tapering femur, Short femur, Elbow dislocation, Short neck, Cleft pa... |
OMIM:108720 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Vertebral segmentation defect, Iris coloboma, Deviation of finger, Cleft p... |
ORPHA:1104 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Duane Retraction Syndrome |
|
Patchy hypopigmentation of hair, Camptodactyly, Hypoplastic iris stroma, Spina bifida occulta, Ir... |
ORPHA:233 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Coloboma, Toe syndactyly, Everted lower lip vermilion, I... |
ORPHA:251014 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short long bone, Death in infancy, Vertebral segmentation defect... |
OMIM:618845 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Absent thumb, Cafe-au-lait spot, Short 1st metacarpal, Hypoplasia of the r... |
OMIM:609053 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Abnormality of retinal pigmentation, Abno... |
ORPHA:1390 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Cervica... |
OMIM:274000 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Tapered finger, Short femoral neck, Fused cervical vertebrae, Flat acetabu... |
OMIM:617159 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, A... |
ORPHA:193 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Hypospadias, Radioulnar synostosis, Coloboma |
OMIM:302905 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... |
OMIM:619110 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Coloboma, Cone/cone-rod dystrophy, Retinal atrophy, Ovoid vertebral bodi... |
ORPHA:85167 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Optic atrophy, Retinal dystrophy, Bifid uvula, Hypoplasia of penis, Submucous ... |
ORPHA:899 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Absent distal pha... |
OMIM:120400 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Jeune Syndrome |
|
Abnormal rib morphology, Toe syndactyly, Abnormality of retinal pigmentation, Abnormal pelvic gir... |
ORPHA:474 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Dental crowding, Lumbar scoliosis |
OMIM:108450 |
Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, High palate, Hallux valgus, Generalized joint laxity, Facet joint arthrosis... |
OMIM:618000 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint... |
ORPHA:2725 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma, Anal atresia |
DECIPHER:42 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Halberd-shaped pelvis, Clino... |
ORPHA:2635 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Hypopigmentation of t... |
ORPHA:163649 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Cleft palate,... |
OMIM:272460 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Optic atrophy, Abnormal metacarpal morphology, Anal atresia, Iri... |
ORPHA:1590 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Dislocated radi... |
ORPHA:166016 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Thoracic kyphosis, Hip dysplasia, Fused cervical vertebrae, Scoliosis, Thick vermi... |
ORPHA:530983 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Juve... |
ORPHA:1264 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... |
OMIM:101200 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Hallux valgus, Multiple joint contractures, Patellar dislocation, Elbow flex... |
ORPHA:536471 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Arthropathy, Bifid uvula, Joint hypermobility, Cataract, Arachnodactyly, R... |
OMIM:604841 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Too... |
ORPHA:2092 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Delayed eruption of teeth, Everted lower lip vermilion, Short neck, Clef... |
ORPHA:915 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Missing ribs, Hand polydactyly, Hypopigmented skin patches, Congen... |
ORPHA:1647 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Vertebral segmentation defect, Ky... |
OMIM:277300 |
Basal Cell Nevus Syndrome 1 |
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Palmar pits, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Iris coloboma,... |
OMIM:109400 |
Baraitser-Winter Syndrome 1 |
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Cleft upper lip, Long philtrum, Wide mouth, Duplication of phalanx of hallux, Thin upper lip verm... |
OMIM:243310 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
1Q21.1 Microdeletion Syndrome |
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Vesicoureteral reflux, High palate, Long philtrum, Toe syndactyly, Foot polydactyly, Ankyloglossi... |
ORPHA:250989 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Increased susceptibility to fractures, Abnormal hand morphology, Sclerotic cranial sutures, Arthr... |
ORPHA:371428 |
Bardet-Biedl Syndrome 11 |
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Polydactyly, Retinopathy |
OMIM:615988 |
Mucopolysaccharidosis, Type Ix |
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Hyperextensibility at wrists, Knee pain, Lumbar scoliosis, Finger joint hypermobility, Synovitis,... |
OMIM:601492 |
Joubert Syndrome 16 |
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Polydactyly, Coloboma, Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
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Iris coloboma, Bifid uvula, High palate, Median cleft lip |
OMIM:155145 |
Eem Syndrome |
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Retinopathy, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnor... |
ORPHA:1897 |
Goldberg-Shprintzen Megacolon Syndrome |
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Finger syndactyly, Aganglionic megacolon, Iris coloboma, Hypospadias, Cleft palate |
ORPHA:66629 |
Crouzon Syndrome |
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Conjunctivitis, Narrow palate, Melanocytic nevus, Optic atrophy, Abnormal sacrum morphology, Hypo... |
ORPHA:207 |
Arthrogryposis, Distal, Type 5 |
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Absent phalangeal crease, Congenital finger flexion contractures, Keratoglobus, Decreased palmar ... |
OMIM:108145 |
Central Areolar Choroidal Dystrophy |
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Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... |
ORPHA:3214 |
Achondrogenesis Type 2 |
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Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Pierre-Robin sequence, Short lon... |
ORPHA:93296 |
Stickler Syndrome, Type I |
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Bifid uvula, Vitreoretinopathy, Cleft palate, Beaking of vertebral bodies, Abnormal femoral epiph... |
OMIM:108300 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Cataract, Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
Bardet-Biedl Syndrome 16 |
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Polydactyly, Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal degeneration, Renal cyst... |
OMIM:615993 |
Oculoauricular Syndrome |
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Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Kbg Syndrome |
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Vertebral fusion, Long philtrum, Thoracic kyphosis, Oligodontia, Cervical ribs, Thin upper lip ve... |
ORPHA:2332 |
Mosaic Trisomy 20 |
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Vertebral fusion, Hypopigmented streaks, Kyphosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Nizon-Isidor Syndrome |
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High, narrow palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Iris ... |
OMIM:618872 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
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Abnormal hand morphology, Small hand, Cataract, Cleft palate, Short foot |
OMIM:300261 |
Autosomal Recessive Stickler Syndrome |
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Genu valgum, Irregular vertebral endplates, Vitreoretinopathy, Epiphyseal dysplasia, Astigmatism,... |
ORPHA:250984 |
Cleft Lip-Retinopathy Syndrome |
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Non-midline cleft lip, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Retinitis Pigmentosa 36 |
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Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Familial Drusen |
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Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Bardet-Biedl Syndrome 7 |
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2-3 toe syndactyly, Polydactyly, Rod-cone dystrophy, Clinodactyly, Narrow mouth, Postaxial polyda... |
OMIM:615984 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Cafe-au-lait spot, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Unilateral ... |
OMIM:619227 |
Congenital Hydrocephalus |
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Macular hypoplasia, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Trisomy 18 |
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Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Iris coloboma, Delayed skelet... |
ORPHA:3380 |
Steinfeld Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Bifid uvula, Abnormal ve... |
OMIM:184705 |
Hajdu-Cheney Syndrome |
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Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Dislocated radial head, Iri... |
OMIM:102500 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... |
OMIM:300554 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Abnormal vertebral morphology, Tracheo... |
ORPHA:77298 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... |
OMIM:600785 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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High palate, Lumbar scoliosis, Short philtrum, Astigmatism, Downturned corners of mouth, Smooth p... |
OMIM:617796 |
Apert Syndrome |
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Aplasia/Hypoplasia of the thumb, Narrow palate, Finger syndactyly, Corneal erosion, Delayed erupt... |
ORPHA:87 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Sacral dimple, Hyperlordosis, Long philtrum, Kyphosis, Astigmatism, Hypospadias, Thin upper lip v... |
OMIM:615761 |
Joubert Syndrome With Oculorenal Defect |
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Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hand polydactyly, Nephropathy, Iris c... |
ORPHA:2318 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
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Hyporeflective spaces on macular OCT, Ankle clonus, Central retinal vessel vascular tortuosity, R... |
ORPHA:506353 |
Joubert Syndrome With Ocular Defect |
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Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hand polydactyly, Abnormal vertebral ... |
ORPHA:220493 |
Arthrogryposis, Distal, Type 3 |
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Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
Absence Deformity Of Leg-Cataract Syndrome |
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Hyperlordosis, Anal atresia, Lower limb undergrowth, Cataract, Scoliosis, Abnormality of femur mo... |
ORPHA:2310 |
Coloboma, Ocular, Autosomal Recessive |
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Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Ramon Syndrome |
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Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... |
ORPHA:3019 |
Otopalatodigital Syndrome Type 2 |
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Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Elbow dislocation, Sh... |
ORPHA:90652 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Shashi-Pena Syndrome |
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Short metacarpal, Kyphosis, Accelerated skeletal maturation, Unilateral renal agenesis, Osteoporo... |
OMIM:617190 |
Richieri-Costa/Guion-Almeida Syndrome |
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Cleft upper lip, Palmoplantar cutis laxa, Spina bifida occulta, Iris coloboma, Abnormal digit mor... |
OMIM:268850 |
Orofaciodigital Syndrome Xvii |
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Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Osteomalacia, Premature loss of ... |
ORPHA:93160 |
Carpenter Syndrome |
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Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
Axial Spondylometaphyseal Dysplasia |
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Peripheral retinal degeneration, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the... |
ORPHA:168549 |
Santos Syndrome |
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Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
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Iris coloboma |
ORPHA:139450 |
Curry-Jones Syndrome |
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Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Intestinal ... |
OMIM:601707 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Enamel hypoplasia, High palate, Cafe-au-lait spot, Ankyloglossia, Adducted thumb, Thin upper lip ... |
OMIM:618874 |
Retinitis Pigmentosa 4 |
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Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Osteomyelitis, Fused cervical vertebrae, Stomatitis, Osteolysis, Periostitis, Osteopenia, Joint s... |
OMIM:612852 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Short femoral neck, Kyphosis, Delayed ossification of carpal bones, Cataract, Brachydactyly, Redu... |
OMIM:618392 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Flynn-Aird Syndrome |
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Rod-cone dystrophy, Increased bone density with cystic changes, Increased bone mineral density, C... |
OMIM:136300 |
Persistent Placoid Maculopathy |
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Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Bardet-Biedl Syndrome 17 |
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Polydactyly, Rod-cone dystrophy, Cone/cone-rod dystrophy, Stage 5 chronic kidney disease, Retinal... |
OMIM:615994 |
Rere-Related Neurodevelopmental Syndrome |
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Vesicoureteral reflux, Optic atrophy, Hip dysplasia, Astigmatism, Iris coloboma, Peters anomaly, ... |
ORPHA:494344 |
Hajdu-Cheney Syndrome |
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Patellar dislocation, Osteolysis, Iris coloboma, Short neck, Thin vermilion border, Cleft palate,... |
ORPHA:955 |
Donnai-Barrow Syndrome |
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Retinal dystrophy, Intestinal malrotation, Iris coloboma, Retinal detachment, Proteinuria |
ORPHA:2143 |
Frontometaphyseal Dysplasia 2 |
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Bifid uvula, Camptodactyly, Elbow contracture, Dislocated radial head, Cleft palate, Talipes equi... |
OMIM:617137 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Short metacarpal, Cataract, Delayed skeletal maturation, Chorioretinal coloboma, Short thumb |
ORPHA:2489 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Retinal pigment epithelial atrophy, Dental malocclusion, Rod-cone dystrophy, Widely spaced teeth,... |
OMIM:616108 |
Chops Syndrome |
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Vesicoureteral reflux, Long philtrum, Optic atrophy, Cataract, Downturned corners of mouth, Horse... |
OMIM:616368 |
Jawad Syndrome |
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Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Congenital Disorder Of Glycosylation, Type Ii |
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Iris coloboma, High palate, Joint laxity, Cataract |
OMIM:607906 |
Pai Syndrome |
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Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Iris coloboma, Cleft palate |
ORPHA:1993 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Short phalanx of finger, Genu valgum, Coxa valga, Retinal thinning, Asteroid hyalosis, Epiphyseal... |
OMIM:132450 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Metaphyseal dysplasia, Genu valgum, Abnormality of the knee, Coxa vara, Short femoral neck, Abnor... |
ORPHA:93316 |
Sjögren-Larsson Syndrome |
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Retinopathy, Corneal erosion, Kyphosis, Macular degeneration, Generalized hyperpigmentation, Abno... |
ORPHA:816 |
Temtamy Preaxial Brachydactyly Syndrome |
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Optic atrophy, Microdontia, Abnormal optic disc morphology, Tibial deviation of the 2nd toe, Shor... |
ORPHA:363417 |
Frontorhiny |
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Camptodactyly of finger, Bifid tongue, Iris coloboma, Cataract, Scoliosis, Brachydactyly, Cleft p... |
ORPHA:391474 |
Bothnia Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Robinow Syndrome, Autosomal Dominant 2 |
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Cleft soft palate, Camptodactyly, Cleft palate, Gingival overgrowth, Sacral dimple, Calvarial ost... |
OMIM:616331 |
Orofaciodigital Syndrome Type 10 |
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Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... |
ORPHA:2756 |
Leber Congenital Amaurosis 13 |
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Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Wolf-Hirschhorn Syndrome |
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Retinopathy, Optic atrophy, Abnormal lip morphology, Iris coloboma, Short hallux, Delayed skeleta... |
ORPHA:280 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
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High, narrow palate, Hypermobility of interphalangeal joints, Broad hallux, Cataract, Broad thumb... |
ORPHA:3433 |
Nephronophthisis 15 |
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Nephronophthisis, Polydactyly, Retinal degeneration |
OMIM:614845 |
Microphthalmia, Isolated, With Coloboma 9 |
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Long philtrum, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Retinal detachment... |
OMIM:615145 |
Joubert Syndrome With Renal Defect |
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Aganglionic megacolon, Hand polydactyly, Nephropathy, Iris coloboma, Scoliosis, Cleft palate, Ren... |
ORPHA:220497 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Kapur-Toriello Syndrome |
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Retinal coloboma, Hypoplasia of penis, Intestinal malrotation, Iris coloboma, Short neck, Orofaci... |
ORPHA:2328 |
Lowry-Wood Syndrome |
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Coxa vara, Patellar dislocation, Irregular epiphyses, Joint stiffness, Elbow dislocation, Disloca... |
ORPHA:1824 |
Frontofacionasal Dysplasia |
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Brushfield spots, Non-midline cleft lip, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Cl... |
ORPHA:1791 |
Laurence-Moon Syndrome |
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Polydactyly, Abnormality of the hand, Chorioretinal atrophy, Micropenis, Pigmentary retinopathy |
OMIM:245800 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Abnormality of retinal pigmentation, Lens subluxation, Cataract, Scoliosis, Arachnodactyly, Retin... |
ORPHA:171844 |
Senior-Loken Syndrome 9 |
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Tubulointerstitial nephritis, Polydactyly, Rod-cone dystrophy, Stage 5 chronic kidney disease, Re... |
OMIM:616629 |
Nephronophthisis |
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Renal insufficiency, Abnormality of retinal pigmentation |
ORPHA:655 |
Koolen-De Vries Syndrome |
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Microdontia, Hip dislocation, Everted lower lip vermilion, Cleft palate, Abnormal dental enamel m... |
ORPHA:96169 |
Alg2-Cdg |
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Iris coloboma, Cataract |
ORPHA:79326 |
Stickler Syndrome Type 1 |
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Long philtrum, Cataract, Joint hyperflexibility, Platyspondyly, Retinal detachment, Cleft palate,... |
ORPHA:90653 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Patellar dislocation, Kyphosis, Hypodontia, Clinodactyly of the 5th finger, Mac... |
ORPHA:2916 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Triple A Syndrome |
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Optic atrophy, Generalized hyperpigmentation, Iris coloboma, Abnormality of the hypothenar eminen... |
ORPHA:869 |
Retinitis Pigmentosa 84 |
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Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Birdshot Chorioretinopathy |
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Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
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Delayed cranial suture closure, Long philtrum, Wide mouth, Hydroureter, Microcornea, Retinoschisi... |
ORPHA:2995 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Thin bony cortex, Bulging of the costochondral junction, Sparse bone trabeculae, Hypophosphatemic... |
OMIM:241530 |
Microcephaly-Cardiomyopathy Syndrome |
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Clinodactyly of the 5th finger, Sandal gap, Abnormality of retinal pigmentation, High, narrow palate |
ORPHA:2515 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Homocarnosinosis |
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Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Retinitis Pigmentosa 40 |
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Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Leber Congenital Amaurosis 8 |
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Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Otospondylomegaepiphyseal Dysplasia |
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Short phalanx of finger, Bifid uvula, Short neck, Fibular bowing, Enlarged joints, Cleft palate, ... |
ORPHA:1427 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
Dent Disease 1 |
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Aminoaciduria, Thin bony cortex, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... |
OMIM:300009 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, High palate, Kyphosis, Craniofacial hyperostosis, Dental crowding, Wormian bones, ... |
ORPHA:2789 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Bifid thoracic vertebrae, Ectopic kidney, Tracheoesophageal fistula, Iris colob... |
ORPHA:268249 |
Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Hypoplasia of the iris, Retinal dystrophy, Inte... |
OMIM:222448 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hip dislocation, Cataract, Hypospadias, Arthrogryposis multiplex congenita, Talipe... |
ORPHA:250994 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Hypoplasia of penis, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Cleft palate, Short ribs, Polycystic kidney dys... |
OMIM:614091 |
Hyperreflexia |
|
Ankle clonus, Abnormality of retinal pigmentation |
OMIM:145290 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Dislocated radial head, Radial deviation of finger,... |
OMIM:268310 |
Joubert Syndrome 18 |
|
Lobulated tongue, Talipes equinovarus, Camptodactyly, Joint laxity, Renal cyst, Kyphoscoliosis, H... |
OMIM:614815 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... |
ORPHA:93284 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Everted lower lip vermilion, Iris coloboma, Thin vermilion border, Opti... |
OMIM:234100 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, Irregular vertebral endplates, Zonular cataract, High palate, Epiphyseal sti... |
OMIM:222765 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue fur... |
ORPHA:313892 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Recurrent fractures, Optic atrophy, Optic disc pallor, Glycosuria, Stage 5 ch... |
OMIM:268315 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... |
ORPHA:90654 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Camptodactyly of finger, Bifid uvula, Submucous cleft hard palate, Abnormality of retinal pigment... |
ORPHA:2521 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atro... |
OMIM:204000 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Short philtrum, Solitary median maxillary central incisor, Iris coloboma, Te... |
ORPHA:280200 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Cleft palate, Hypoplasia of the odontoid process, Postaxial polydactyly |
OMIM:612913 |
Juvenile Paget Disease |
|
Melanocytic nevus, Recurrent fractures, Optic atrophy, Coarse metaphyseal trabecularization, Abno... |
ORPHA:2801 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Ulnar deviation of the hand, Bifid uvula, Camptodactyly, Postaxial foot polydactyl... |
OMIM:614175 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Retinopathy, Hand monodactyly, Split foot, Cataract, Split hand |
OMIM:183800 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Scoliosis, Hammertoe |
OMIM:619090 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Optic atrophy, Delayed eruption of t... |
OMIM:305600 |
Elsahy-Waters Syndrome |
|
Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Increased cup-to-disc ratio, Age... |
OMIM:211380 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Retinal dysplasia, Renal hypoplasia, Po... |
OMIM:615665 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Abnormality of retinal pigmentation, Nephropathy, Nephrolithiasis, Chorioretinal colob... |
ORPHA:2196 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Coffin-Lowry Syndrome |
|
Tapered finger, Optic atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Delayed sk... |
ORPHA:192 |
Frontonasal Dysplasia 1 |
|
Coloboma, Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Campto... |
OMIM:136760 |
Alpha-Mannosidosis |
|
Dental malocclusion, Avascular necrosis, Narrow palate, Kyphosis, Widely spaced teeth, Hypoplasti... |
ORPHA:61 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Horizontal ribs, Absent or minimally ossified vertebral bodies, Retinop... |
ORPHA:1505 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:85172 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Hypoplasia of penis, Anal atresia, Hypospadias, Cataract, Abnormal palate morphology... |
ORPHA:1381 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma, Optic atrophy |
OMIM:618012 |
Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Iris coloboma, Short neck... |
ORPHA:2308 |
Hypophosphatasia, Adult |
|
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Premature ... |
OMIM:146300 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Bifid tongue, Optic atrophy, Hip dislocation, Iris coloboma, Short neck, Toot... |
ORPHA:818 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Urinary incontinence, Rod-cone dystrophy, Joint contracture of the hand, Optic atrophy, Camptodac... |
OMIM:609033 |
Joubert Syndrome |
|
Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Iris coloboma, Scoliosis, Abnormal for... |
ORPHA:475 |
White-Sutton Syndrome |
|
Rod-cone dystrophy, High palate, Bifid uvula, Short philtrum, Joint laxity, Optic nerve hypoplasi... |
OMIM:616364 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
Biemond Syndrome Type 2 |
|
Hypospadias, Preaxial polydactyly, Coloboma |
ORPHA:141333 |
Sturge-Weber Syndrome |
|
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Hyperosto... |
ORPHA:3205 |
Cerebrooculonasal Syndrome |
|
Narrow palate, High palate, Long philtrum, Optic nerve hypoplasia, Solitary median maxillary cent... |
OMIM:605627 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling, Corneal crystal... |
OMIM:219900 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Wide mouth, Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Catar... |
ORPHA:2715 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the wrist, Metatarsal synostosis, Abnormal oral frenulum morphology, Abnormality o... |
ORPHA:2496 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Iris coloboma, Short neck, Scoliosis, Cleft palate, Optic disc coloboma |
ORPHA:52055 |
Vici Syndrome |
|
Hypopigmentation of the skin, High palate, Renal tubular acidosis, Optic atrophy, Death in infanc... |
ORPHA:1493 |
Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Brachydactyly, Renal hypoplasia, Pigmentary retinopathy, Postaxial polydactyly |
OMIM:600151 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Metatarsus adductus, Iris coloboma, Short hallux, Abnormal sternal ossification,... |
OMIM:194190 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea |
OMIM:251505 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Joubert Syndrome 15 |
|
Polydactyly, Retinopathy, Retinal dystrophy, Nephronophthisis, Micropenis |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Enlarged kidney, Ab... |
OMIM:613091 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Orofacia... |
ORPHA:324416 |
Dent Disease |
|
Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperphosphaturia, Sparse bon... |
ORPHA:1652 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Hypo... |
ORPHA:3201 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Multiple joint contractures, Neuropathic spinal arthropathy, Hip dislocat... |
ORPHA:370968 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occulta, Cataract,... |
ORPHA:64754 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Missing ribs, Anal atresia, Joint stiffness, Abnormal pelvic girdle bone m... |
ORPHA:3027 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed ep... |
OMIM:600081 |
Koolen-De Vries Syndrome |
|
Fair hair, Iris hypopigmentation, Hip dislocation, Everted lower lip vermilion, Slender finger, P... |
OMIM:610443 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, Abnormal form of the... |
ORPHA:3258 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperlordosis, Kyphosis, Abnormality of retinal pigmentation, Cataract, Delayed skelet... |
ORPHA:3085 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, High palate, Supernumerary ribs, Retinal dystrophy, Hypoplasia of penis, Microcorn... |
ORPHA:251066 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Bulging of the costochondral junction, Delayed eruption of teeth, Sparse bone t... |
OMIM:264700 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... |
ORPHA:3186 |
Nail-Patella Syndrome |
|
Biceps aplasia, Patellar dislocation, Triceps aplasia, Absent distal interphalangeal creases, Glo... |
OMIM:161200 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... |
OMIM:174300 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Retinal pig... |
OMIM:617102 |
Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Short neck, Narrow mouth, H... |
ORPHA:1780 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Osteomalacia, Rickets, Hypophosphatemic rickets, Abnormality of the dent... |
OMIM:193100 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Aminoaciduria, Optic nerve dysplasia, Joint contracture of the hand, Polycystic... |
OMIM:214110 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Radial bowing, Polycystic kidney dysplasia, Missing ribs, Ulnar b... |
OMIM:617866 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Triopia |
|
Abnormal pupil morphology, Median cleft lip, Microcornea, Iris coloboma, Cleft palate |
ORPHA:3374 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
Dubowitz Syndrome |
|
Sacral dimple, Megalocornea, High palate, Rod-cone dystrophy, Delayed eruption of teeth, Hypoplas... |
OMIM:223370 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Short neck, Enlarged joints, Cleft palate, Flattened,... |
OMIM:156550 |
Retinitis Pigmentosa |
|
Optic atrophy, Hypoplasia of penis, Abnormality of retinal pigmentation, Cataract, Keratoconus, A... |
ORPHA:791 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... |
OMIM:300166 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Rod-cone dystrophy, Short long bone, Brachydactyly, Nephrocalcinosis, Postaxial ... |
OMIM:615633 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Deep palmar crease, Cleft upper lip, Coloboma |
OMIM:600251 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Rectal atresia, Volvulus, Anal atresia, Intestinal malrotation, Iris colob... |
OMIM:115470 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Cataract, Short neck, Downturned corners of mouth, Proximal placement of thumb, D... |
ORPHA:93267 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Short toe, Vesicoureteral reflux, Tapered finger, Hallux valgus, Coloboma, Lo... |
OMIM:618659 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Nephropathy, Iris coloboma, Scoliosis, Chorioretinal coloboma, Post... |
ORPHA:1454 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Optic atrophy, Death in infancy, Limitation of joint mobility, Organic aciduri... |
ORPHA:99742 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Anal atresia, Anteriorly placed anus, Single transverse palmar crease, Ir... |
OMIM:309801 |
15Q24 Microdeletion Syndrome |
|
Small hand, Kyphosis, Microphallus, Coloboma, Thick lower lip vermilion, Long philtrum, Clinodact... |
ORPHA:94065 |
Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Clinodactyly, Syndactyly, Narrow palm, Multiple cafe-au-lait ... |
ORPHA:1445 |
Desmoid Tumor |
|
Malabsorption, Limitation of joint mobility, Intestinal polyposis, Abnormality of retinal pigment... |
ORPHA:873 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Microdontia, Bifid uvula, Camptodactyly, Hip dislocation, Short neck, Smooth phil... |
OMIM:613458 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Cree Mental Retardation Syndrome |
|
Coloboma, Cleft soft palate, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Hypospa... |
OMIM:606851 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Jacobsen Syndrome |
|
Flexion contracture, Optic atrophy, Macular hypoplasia, Pyloric stenosis, Missing ribs, Clinodact... |
OMIM:147791 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Hypoplasia of penis, Submucous cleft hard palate, Failure of eruption of permanent t... |
ORPHA:2250 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Enlarged kidney, Polycystic kidney dysplasia, Short neck, Cleft pal... |
OMIM:613885 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Iris coloboma, Broad thumb, Abnorma... |
ORPHA:1236 |
Adnp Syndrome |
|
Polydactyly, 2-3 toe syndactyly, Urinary incontinence, Abnormal finger morphology, Thick lower li... |
ORPHA:404448 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Short neck, Delayed skeletal maturation, Flexion contractu... |
OMIM:255800 |
Micro Syndrome |
|
High palate, Kyphosis, Retinal coloboma, Optic atrophy, Hypoplasia of penis, Short philtrum, Abno... |
ORPHA:2510 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... |
OMIM:620107 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Large iliac wing, Delayed eruption of teeth, Incre... |
ORPHA:2780 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Proximal tubulopathy, Rickets, Polyuria, Mottled pigmentation of photoexp... |
OMIM:560000 |
Treacher-Collins Syndrome |
|
Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Abnormality of dental mor... |
ORPHA:861 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Retinal dystrophy, Joint laxity, Microcornea, Optic nerve hypoplasia, Cataract, Cleft p... |
OMIM:610125 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Recurrent fractures, Abnormal finger morphology, Coloboma, Hyperpho... |
OMIM:163200 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... |
OMIM:171480 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Hyperphosphaturia, Medullary nephrocalcinosis, Bone pain, Bowing of the legs, Rachi... |
ORPHA:157215 |
Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, Renal cyst, Syndactyly, Hypospadias, Pigmentary retinopathy, Postaxial polyda... |
OMIM:605231 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed epiphyseal ossificat... |
ORPHA:289157 |
Cerebrocostomandibular Syndrome |
|
Cleft soft palate, Elbow flexion contracture, Posterior rib gap, Cleft palate, Glossoptosis, Rib ... |
OMIM:117650 |
Codas Syndrome |
|
Short metacarpal, Delayed eruption of teeth, Hydroureter, Abnormality of dental morphology, Abnor... |
ORPHA:1458 |
Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Macular atrophy, Bone spicule pigmentation of the retina, C... |
OMIM:617781 |
Myhre Syndrome |
|
Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnormal rib morphology, Abnormal metaphy... |
ORPHA:2588 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Long philtrum, Gingival overgrowth, Clinodactyly, Camptodactyly, Broad hallux,... |
OMIM:618529 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Broad thumb, Mucopolysacchariduria,... |
ORPHA:585 |
Harrod Syndrome |
|
Dental malocclusion, Multicystic kidney dysplasia, High palate, Kyphosis, Abnormal pelvic girdle ... |
ORPHA:2115 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Tapered finger, Cafe-au-lait spot, Kyphosis, Cataract, High, narrow palate |
OMIM:619255 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, High palate, Bifid uvula, Iris coloboma, Short neck, Optic disc coloboma |
OMIM:300472 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, B... |
OMIM:277440 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Delayed closure of the anterior fontanelle, High palate, Clinodactyly of the 5th fin... |
ORPHA:231140 |
Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Fusion of middle ear ossicles, Pseudoepiphyses, Long philtrum, Wide mouth,... |
OMIM:157800 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Townes-Brocks Syndrome |
|
Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morphology, Vesicoureteral reflux, Hypopl... |
ORPHA:857 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, High palate, Long philtrum, Elevated urinary 3-hydroxybuty... |
OMIM:614105 |
Bardet-Biedl Syndrome 19 |
|
Rod-cone dystrophy, Renal hypoplasia, Renal insufficiency, Postaxial polydactyly, Hydronephrosis |
OMIM:615996 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Joubert Syndrome 20 |
|
Renal cyst, Retinopathy, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida occulta, Bipartite calcaneus, ... |
OMIM:150250 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Coloboma, Esophageal atresia, Supernumerary ribs, Missing... |
OMIM:206900 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Hip dysplasia, Vertebral segmentation defect, Downturned corners of mouth, Abnormal ... |
ORPHA:531151 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Joubert Syndrome 10 |
|
Rod-cone dystrophy, Deep philtrum, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Iris coloboma, Peters anomaly, Short neck, Thin vermilion border, Conical... |
OMIM:261540 |
Holoprosencephaly |
|
Retinopathy, Optic atrophy, Median cleft lip, Iris coloboma, Short neck, Tooth agenesis, Cyclopia... |
ORPHA:2162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Hyperlordosis, Flexion contracture, Hip dislocation, Macroglossia, Scolio... |
OMIM:613156 |
Neuroocular Syndrome |
|
Tapered finger, Torus palatinus, Lens coloboma, Iris coloboma, Peters anomaly, Blue irides, Scapu... |
OMIM:619539 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, High palate, Ulnar deviation of finger, Short philtrum, Abnormal distal phalanx mo... |
ORPHA:1387 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Brachydactyly, Unicoronal synostosis... |
OMIM:604757 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Macrog... |
OMIM:606612 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Aicardi Syndrome |
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Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Block vertebrae, Hip dyspl... |
ORPHA:50 |
Chromosome 13Q14 Deletion Syndrome |
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Retinoblastoma, High palate, Deep philtrum, Hip dislocation, Clinodactyly of the 5th finger, Over... |
OMIM:613884 |
Kbg Syndrome |
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Vertebral fusion, Vertebral arch anomaly, Long philtrum, Thoracic kyphosis, Oligodontia, Clinodac... |
OMIM:148050 |
Pseudopseudohypoparathyroidism |
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Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Cataract, Short neck, Brachydacty... |
OMIM:612463 |
Autosomal Dominant Keratitis |
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Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Lowry-Wood Syndrome |
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Multiple joint dislocation, Thick vermilion border, Elbow flexion contracture, Hip dislocation, I... |
OMIM:226960 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Exudative Vitreoretinopathy 6 |
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Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
20P13 Microdeletion Syndrome |
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Polydactyly, Retinopathy, Finger syndactyly, Clinodactyly, Microcornea, Thin upper lip vermilion,... |
ORPHA:313781 |
Anterior Segment Dysgenesis 8 |
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Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Arnold-Chiari Malformation Type I |
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Urinary incontinence, Stiff neck, Areflexia of upper limbs, Fused cervical vertebrae, Anteriorly ... |
ORPHA:268882 |
Chromosome 8Q21.11 Deletion Syndrome |
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Pigmentary retinopathy, High palate, Short metacarpal, Camptodactyly, Absent palmar crease, Short... |
OMIM:614230 |
Macrophthalmia, Colobomatous, With Microcornea |
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Macular atrophy, Coloboma, Microcornea |
OMIM:602499 |
Tarp Syndrome |
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Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Optic atrophy... |
OMIM:311900 |
Meckel Syndrome, Type 1 |
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Camptodactyly of finger, Iris coloboma, Radial deviation of finger, Abnormality of the ureter, Sh... |
OMIM:249000 |
Lenz-Majewski Hyperostotic Dwarfism |
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Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Delayed skeletal mat... |
ORPHA:2658 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Ectopic anus, Block vertebrae, Neurogenic bladder, Vertebral segmentation defec... |
OMIM:613686 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hip subluxation, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, High palate, Small hand,... |
ORPHA:444077 |
Spondylo-Ocular Syndrome |
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Long philtrum, Thoracic kyphosis, Iris hypopigmentation, Cataract, Short neck, Abnormal intervert... |
ORPHA:85194 |
Achromatopsia |
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Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Retinitis Pigmentosa 2 |
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Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Microphthalmia, Syndromic 1 |
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Camptodactyly, Iris coloboma, Radial deviation of finger, Optic disc coloboma, Orofacial cleft, L... |
OMIM:309800 |
Chromosome 17Q12 Duplication Syndrome |
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Cleft soft palate, Esophageal atresia, Broad thumb, Peters anomaly, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Laurin-Sandrow Syndrome |
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Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Retinitis Pigmentosa 57 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Bardet-Biedl Syndrome 22 |
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Polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Postaxial foot polydactyly |
OMIM:617119 |
Coffin-Siris Syndrome 11 |
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High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... |
OMIM:618779 |
Leber Congenital Amaurosis |
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Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Suleiman-El-Hattab Syndrome |
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Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... |
OMIM:618950 |
Exudative Vitreoretinopathy 4 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
White-Sutton Syndrome |
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Rod-cone dystrophy, High palate, Optic atrophy, Short philtrum, Joint laxity, Astigmatism, Iris c... |
ORPHA:468678 |
Marshall Syndrome |
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Thick upper lip vermilion, Coxa valga, Irregular distal femoral epiphysis, Bifid uvula, Vitreoret... |
OMIM:154780 |
Mietens Syndrome |
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Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... |
ORPHA:2557 |
Cohen Syndrome |
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Genu valgum, Tapered finger, Thoracic scoliosis, Short metacarpal, Macrodontia of permanent maxil... |
OMIM:216550 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Cleft upper lip, High palate, Posterior embryotoxon, Ocular anterior segment dysgenesis, Hip dysp... |
OMIM:612582 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Death in infancy, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney, Cataract, Neonatal d... |
OMIM:613730 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Enamel hypoplasia, Cataract, Downturned corners of mouth, Delayed skeletal maturation, Brachydact... |
ORPHA:2643 |
Retinitis Pigmentosa 33 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Cleft Palate, Deafness, And Oligodontia |
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Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Hyperlordosis, Vertebral fusion, Kyphosis, Exercise-induced myoglobinuria, Achilles tendon contra... |
OMIM:607155 |
Bardet-Biedl Syndrome 1 |
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Attenuation of retinal blood vessels, Radial deviation of finger, Postaxial hand polydactyly, Rod... |
OMIM:209900 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Iris coloboma, Osteochondrosis, Sa... |
ORPHA:268261 |
Rhizomelic Chondrodysplasia Punctata |
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Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Cataract, Scoliosis, Ab... |
ORPHA:177 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2579 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormality of renal excretion, Rickets of the lower limbs, Abnormal trabecular bone morphology, ... |
ORPHA:289176 |
Joubert Syndrome 7 |
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Genu valgum, Stage 5 chronic kidney disease, Retinal dystrophy, Renal cyst, Scoliosis, Postaxial ... |
OMIM:611560 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Broad long bone diaphyses, Stage 5 chronic kidney disease, Short iliac bones, Attenuation of reti... |
OMIM:614376 |
Acrocallosal Syndrome |
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Tapered finger, Coloboma, Everted upper lip vermilion, Optic atrophy, Toe syndactyly, Bifid uvula... |
OMIM:200990 |
Otodental Dysplasia |
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Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... |
OMIM:166750 |
Martsolf Syndrome 2 |
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Camptodactyly of finger, Camptodactyly, Developmental cataract, Overlapping toe, Cataract |
OMIM:619420 |
Cone-Rod Dystrophy 5 |
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Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
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Hip dysplasia, Unilateral renal agenesis, Deviation of the 5th finger, Joint hypermobility, Broad... |
OMIM:616362 |
Meckel Syndrome, Type 11 |
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Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Retinitis Pigmentosa 11 |
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Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |