Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Wide anterior fontanel, Delayed epiphyseal ossification, Flared metaphysis, Plat... |
OMIM:601561 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Retinopathy, Microcephaly, Microcornea, Optic atrophy, Optic disc pallor, Propt... |
OMIM:616171 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Hearing impairment, Cataract, Rod-cone dystrophy |
OMIM:300719 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Broad nasal tip, Posterior subcapsular cataract, Microcornea, Wide nose, Chorioretinal degenerati... |
OMIM:615458 |
Mucolipidosis Type Iii |
|
Corneal opacity, Large iliac wing, Inguinal hernia, Abnormal hip bone morphology, Cleft palate, S... |
ORPHA:577 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... |
ORPHA:791 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recurvatum, Wide mout... |
ORPHA:137834 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Deeply set eye, Slender long bones with narrow diaphyses, Small... |
OMIM:608154 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Proptosis, Hypoplasia of ... |
OMIM:259600 |
Classic Multiminicore Myopathy |
|
High palate, Multiple joint contractures, Muscle fiber atrophy, Microretrognathia, Spinal rigidit... |
ORPHA:324604 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Abnormality of the dentition, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital femoral epiphy... |
OMIM:601560 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Abnormal antihelix morphology, Hearing impairment, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Galactosialidosis |
|
Hearing impairment, Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Corneal opacity... |
ORPHA:2370 |
Dental Anomalies And Short Stature |
|
Hypertrichosis, Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondy... |
OMIM:601216 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... |
OMIM:612572 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... |
OMIM:180105 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... |
ORPHA:94058 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Sensorineural hearing impairment, Subcapsular cataract, Decreased nerve conduction velocity, Rod-... |
OMIM:612674 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... |
OMIM:204000 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... |
OMIM:602772 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital sensorineural hearing impairment, Protruding ear, Congenital stationary night blindnes... |
ORPHA:293967 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Glaucoma, Primary Closed-Angle |
|
Ocular hypertension, Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Idiopathic Anterior Uveitis |
|
Nuclear cataract, Increased cup-to-disc ratio, Ocular hypertension, Macular edema, Posterior subc... |
ORPHA:280914 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... |
OMIM:600132 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Microcephaly, Attenuation of retinal blood vessels, Posterior subcapsular cat... |
OMIM:300578 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Post... |
OMIM:133780 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Spondylolisthesis, Dentinogenesis imperfecta, Congenital hip dislocat... |
OMIM:229200 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... |
OMIM:604393 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Heari... |
ORPHA:65 |
Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:617304 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Megalocornea, Ventricular septal defect, Proptosis, Bowing of the long b... |
OMIM:249420 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:300424 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Wide anterior fontanel, Short distal phal... |
ORPHA:2963 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:616469 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Hypergonadotr... |
OMIM:268020 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... |
OMIM:613810 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Severe short stature, De... |
ORPHA:2511 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... |
OMIM:615233 |
Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Chorioretinal atrophy, Foveoschisis, Posterior subcapsular cataract |
OMIM:258870 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Microgn... |
ORPHA:3098 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... |
ORPHA:414 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract |
OMIM:165300 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Contractural Arachnodactyly, Congenital |
|
High palate, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long... |
OMIM:121050 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Metaphyseal dysplasia, Phthisis bulbi, Hypertelorism, Increased interv... |
OMIM:619727 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... |
ORPHA:193 |
Leber Congenital Amaurosis 8 |
|
Deeply set eye, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopath... |
OMIM:613835 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Distal Monosomy 6P |
|
Corneal opacity, Hypertelorism, Abnormal anterior chamber morphology, Ectopia pupillae, Depressed... |
ORPHA:96125 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... |
ORPHA:1473 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Clinodactyly of the 5th finger, Small hand, Abnormality of the dentition, Pulmonic s... |
ORPHA:2868 |
Noonan Syndrome 13 |
|
High palate, Wide mouth, Hypertrichosis, Blue irides, Short neck, Microdontia, Tapered finger, U-... |
OMIM:619087 |
Elsahy-Waters Syndrome |
|
High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Proptosis, Hypoplasia of th... |
OMIM:211380 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Macrodontia of permanent maxillary centr... |
OMIM:216550 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Carious teeth, Genu valgum, ... |
ORPHA:582 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Platyspondyly, Broad femo... |
ORPHA:157965 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... |
OMIM:618150 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Anterior beaking of lumbar vertebr... |
OMIM:253000 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
Achondroplasia |
|
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Bowing of the legs... |
ORPHA:15 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Platyspondyly, Carious teeth, Disp... |
OMIM:253010 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Protruding ear, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Proptosis, Cataract, Prog... |
OMIM:617481 |
Brittle Cornea Syndrome |
|
Corneal scarring, Sensorineural hearing impairment, Conductive hearing impairment, Bruising susce... |
ORPHA:90354 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Mitral regurgita... |
OMIM:612561 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulmonic stenosis, Mi... |
ORPHA:228410 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Cleft palate, Craniosynostosis, Metacarpophalangeal joint hyperextensibility, Platyspondyly, Shor... |
OMIM:245600 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Anterior uvei... |
ORPHA:279914 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Proptosis, Omphalocele, Dumbbell-shaped long bone, Short l... |
OMIM:228520 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Sparse hair, Micrognathia, Delayed cranial suture closure, Brachydactyly, Scoliosis,... |
OMIM:601812 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Genu recurvatum, Lens subluxation, Arachnodactyly, Hyperextensibility of the finger joi... |
OMIM:609008 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphosis, High palate, Deeply set eye, Lipoatrophy, High, na... |
OMIM:616914 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... |
OMIM:613913 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... |
OMIM:233805 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abn... |
ORPHA:90654 |
Ruijs-Aalfs Syndrome |
|
Bulbous nose, Decreased body weight, Posterior subcapsular cataract, Lipodystrophy, Elbow flexion... |
OMIM:616200 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Flexion con... |
OMIM:263210 |
Eales Disease |
|
Transient ischemic attack, Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal det... |
ORPHA:40923 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Acrocallosal Syndrome |
|
Wide anterior fontanel, Congenital diaphragmatic hernia, Inguinal hernia, Postaxial hand polydact... |
ORPHA:36 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... |
ORPHA:209959 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... |
ORPHA:90646 |
Acrogeria |
|
Lipoatrophy, Small hand, Micrognathia, Scoliosis, Short foot, Fine hair |
ORPHA:2500 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Recurrent fractures, Joint hypermobility, Inguinal hernia, Megalocornea, Keratoconus... |
OMIM:614170 |
Cornelia De Lange Syndrome |
|
High palate, Cleft palate, Short 1st metacarpal, Short neck, Micromelia, Delayed eruption of teet... |
ORPHA:199 |
Microphthalmia, Isolated 6 |
|
Microcornea, Retinal fold, Ocular hypertension |
OMIM:613517 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremi... |
OMIM:146000 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Wide anterior fontanel, Abnormal femoral neck/head morphology, Hypertelorism, Slender finger, Wid... |
ORPHA:163649 |
X-Linked Intellectual Disability, Najm Type |
|
Sensorineural hearing impairment, Failure to thrive, Cerebral cortical atrophy, Optic nerve hypop... |
ORPHA:163937 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Phthisis bulbi, Short stature, Metaphyseal widening, Platyspondyly, Ventricular s... |
OMIM:259770 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, Tooth malposition, High, narrow palate, Failure of eruption of permanent te... |
ORPHA:3238 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Lipoatrophy, Loss of gluteal subcutaneous adipo... |
ORPHA:280356 |
Alpha-Mannosidosis |
|
Kyphosis, Dental malocclusion, Gingival overgrowth, Narrow palate, Corneal opacity, Inguinal hern... |
ORPHA:61 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Cataract, Truncal obesity, Retinal dystrophy |
OMIM:610156 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Long philtrum, Camptodacty... |
OMIM:211960 |
Oculoauricular Syndrome |
|
Microphakia, Phthisis bulbi, Short mandibular rami, Ocular hypertension, Posterior embryotoxon, M... |
OMIM:612109 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
Becker Nevus Syndrome |
|
Kyphosis, Lipoatrophy, Supernumerary nipple, Scoliosis, Micromelia, Abnormality of tibia morpholo... |
ORPHA:64755 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Abnormality of the ear, Gliosis, Brain atrophy, Cataract, Deeply set eye, Flexion contracture, El... |
OMIM:214150 |
Developmental And Epileptic Encephalopathy 73 |
|
Sensorineural hearing impairment, Failure to thrive, Flexion contracture, Inguinal hernia, Microc... |
OMIM:618379 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Ocular hypertension, Microcornea, Macular atrophy |
OMIM:602499 |
Stickler Syndrome, Type I |
|
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Cleft palate, Malar flattening, Arachno... |
OMIM:108300 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Platyspondyly, Hypoplasia of the femoral head, Short humerus, Wide distal femoral me... |
OMIM:619598 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic ... |
ORPHA:2143 |
Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Short stature, Absent facial hair, Sparse facial hair, Short neck, Mitral va... |
ORPHA:2183 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Congenital foot contracture... |
OMIM:602484 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Osteopenia, Depressed nasal bridge, Megalocornea, Posterior subcapsu... |
ORPHA:536471 |
Chromosome 16Q22 Deletion Syndrome |
|
Failure to thrive, Wide anterior fontanel, Small for gestational age, Micrognathia, Prominent met... |
OMIM:614541 |
Arthrogryposis, Distal, Type 5 |
|
Protruding ear, Abnormality of retinal pigmentation, Deeply set eye, Limited wrist extension, Ast... |
OMIM:108145 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Joint stiffness, Abnormality of retinal pigmentation, Cerebral ... |
ORPHA:1466 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Cleft p... |
ORPHA:1388 |
Vitamin K Antagonist Embryofetopathy |
|
Hypertelorism, Microtia, Depressed nasal bridge, Optic atrophy, Proptosis, Short nose, Cataract, ... |
ORPHA:1914 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Hip subluxation... |
ORPHA:99642 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Tricuspid regurgitation, Everted lower lip vermilion, Mitr... |
ORPHA:324410 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Microcephaly, Progressive hearing impairment, Posterior subcapsular cataract, Astigmatism, Bilate... |
OMIM:619234 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Nemaline bodies, Congenital hip dislocation, Pelvic ... |
ORPHA:597 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Shallow anterior chamber, Convex nasal ridge, Ocular hypertension, Wide nose, Spont... |
OMIM:601552 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... |
OMIM:251450 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Hirsutism, Gingival overgrowth, Corneal opacity, Carpal osteolysis, ... |
OMIM:277950 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Failure to thrive, Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes e... |
ORPHA:93359 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Coars... |
OMIM:309350 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Lipodystrophy, Proptosis, Hypogonadism |
OMIM:615381 |
Alstrom Syndrome |
|
Subcapsular cataract, Chronic active hepatitis, Nephritis, Otitis media, Hypergonadotropic hypogo... |
OMIM:203800 |
Neurofibromatosis, Type Ii |
|
Juvenile posterior subcapsular lenticular opacities, Peripheral Schwannoma, Bilateral vestibular ... |
OMIM:101000 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Prominent nose, Hypertelorism, Cataract, Epiphyseal stippling |
OMIM:614882 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Radial bowing, Inguin... |
OMIM:610915 |
Mucolipidosis Iv |
|
Corneal opacity, Retinal degeneration, Microcephaly, Opacification of the corneal stroma, Optic a... |
OMIM:252650 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Per... |
ORPHA:101082 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal hair quantity, Abnormal morphology of ulna, Short stature, Short neck, Abno... |
ORPHA:2233 |
Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femo... |
OMIM:618853 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Cerebral atrophy, Small for gestational age, Microcephaly, Cataract, Choanal atresia, Ce... |
OMIM:615095 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Micrognathia, Broad femoral neck, Wormian bones, Vertebral arch anomaly, ... |
ORPHA:85184 |
Spastic Paraparesis And Deafness |
|
Hearing impairment, Cataract, Hypogonadism |
OMIM:312910 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Tooth agenesis, Hernia of the abdominal wall, Micrognathia, Bra... |
ORPHA:1277 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip dislocation, Ru... |
OMIM:304120 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Deeply set eye, Talipes equinovarus, Short tibia, Microg... |
OMIM:201170 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 vertebral fu... |
OMIM:618000 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Micrognathia, Scoli... |
ORPHA:2617 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central i... |
OMIM:616202 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
High palate, Wide mouth, Hypotelorism, Atrial septal defect, Prominent fingertip pads, Short stat... |
OMIM:300986 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Protruding ear, Myopic astigmatism, Broad nasal tip, Microcephaly, Retinal detac... |
OMIM:152950 |
Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Flexion contracture, Hypod... |
OMIM:617396 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Alopecia, Hammertoe, Phalangeal dislocation, Ventral hernia, Sandal gap, Umbilical h... |
ORPHA:536532 |
Martsolf Syndrome 2 |
|
Decreased body weight, Brain atrophy, Hypogonadotropic hypogonadism, Microcephaly, Camptodactyly ... |
OMIM:619420 |
Anauxetic Dysplasia 1 |
|
Platyspondyly, Short neck, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib... |
OMIM:607095 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Biconca... |
OMIM:259420 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... |
ORPHA:1818 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
High palate, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Calcaneoval... |
ORPHA:230851 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Hypotelorism, Tooth malposition, Malar flattening, Everted lower lip vermilion, Shor... |
ORPHA:1387 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... |
OMIM:271530 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Lipodystrophy, Short clavicles, Down-sloping shoulders |
OMIM:212112 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Pursed lips, Quadriceps muscle weakness, Platyspondyly, Short neck, Congenital hip d... |
OMIM:255800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Microcephaly, Cataract |
OMIM:615412 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Pseudoexfoliation, Ca... |
OMIM:177650 |
Microtriplication 11Q24.1 |
|
Hypertelorism, Attached earlobe, Microcephaly, Wide nose, Keratoconus, Obesity, Hearing impairmen... |
ORPHA:289522 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Convex nasal ridge, Microcephaly, Narrow nasal bridge, Overhanging nasal tip, Proptosis, Cataract |
ORPHA:85172 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose, Cerebellar atrophy, Macrotia, Progressive microcephaly, Hyper... |
ORPHA:438178 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Cataract, Arrhythmia |
ORPHA:2663 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Premature graying of hair, Lipoatrophy, Flexion contracture,... |
ORPHA:1979 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... |
OMIM:603165 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Craniosynostosis, Shallow orbits, Genu valgum, Proptosis, Hypoplasia of the maxilla,... |
OMIM:182212 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Primary amenorrhea, Generalized lipodystrophy, Li... |
OMIM:612526 |
Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-limb short stature,... |
OMIM:222600 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Cataract, Hypogonadism |
ORPHA:2815 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy |
OMIM:305800 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension |
OMIM:613195 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, I... |
ORPHA:1988 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... |
OMIM:601356 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Oligomenorrhea, Lipoatrophy |
OMIM:613877 |
Alport Syndrome |
|
Sensorineural hearing impairment, Nephritis, Macular degeneration, Recurrent corneal erosions, Po... |
ORPHA:63 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Costello Syndrome |
|
Narrow palate, Woolly hair, Macroglossia, Short stature, Pulmonic stenosis, Abnormality of the de... |
ORPHA:3071 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Severe platyspondyly, Proptosis, Open mouth, Sacral dimple, Deeply set eye, Inc... |
ORPHA:508533 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Corneal opacity, Microcornea |
ORPHA:2432 |
Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, B... |
ORPHA:1860 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wing, Short stature... |
OMIM:252605 |
Atelosteogenesis, Type Ii |
|
Cleft palate, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sandal gap, Increased int... |
OMIM:256050 |
20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Decreased body weight, Deeply set eye, Brachydactyly, Polydactyly, Clinod... |
ORPHA:313781 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Inguinal hernia, Adducted thumb, Arachnodactyly, Mitral regurgitation,... |
OMIM:615539 |
Loeys-Dietz Syndrome 4 |
|
High palate, Flat cornea, Bicuspid aortic valve, Torticollis, Spondylolisthesis, High, narrow pal... |
OMIM:614816 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... |
OMIM:300718 |
Nemaline Myopathy 3 |
|
High palate, Nemaline bodies, Spinal rigidity, Retrognathia, EMG: myopathic abnormalities, Scolio... |
OMIM:161800 |
Familial Isolated Dilated Cardiomyopathy |
|
Palmoplantar keratoderma, Lipoatrophy |
ORPHA:154 |
Crouzon Syndrome |
|
Conductive hearing impairment, Hypertelorism, Convex nasal ridge, Optic atrophy, Iris coloboma, P... |
ORPHA:207 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Proptosis, Abnormal epiphysi... |
ORPHA:1798 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Deeply set eye, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, M... |
ORPHA:261304 |
Bilateral Striopallidodentate Calcinosis |
|
Microcephaly, Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad distal phalanx of fin... |
OMIM:615761 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Failure to thrive, Wide anterior fontanel, Abnormality of hair texture, Inguinal hernia, Brittle ... |
OMIM:219200 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Warburg-Cinotti Syndrome |
|
Conductive hearing impairment, Ankle flexion contracture, Flexion contracture of finger, Hypoplas... |
OMIM:618175 |
Rhizomelic Syndrome |
|
Wide anterior fontanel, Micrognathia, Rhizomelia, Bifid distal phalanx of the thumb, Complete dup... |
OMIM:268250 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopa... |
ORPHA:137902 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Arachnodactyly, Sparse ey... |
ORPHA:75496 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased body weight, Deeply set eye, Sm... |
OMIM:270450 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Gómez-López-Hernández Syndrome |
|
Anteverted nares, Low-set ears, Corneal opacity, Hypertelorism |
ORPHA:1532 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis, Optic atrophy, Optic disc pallor, Sclerosis of finger phalanx, Limb joint contracture, A... |
ORPHA:404454 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Microphthalmia, Hypertelorism, Brachydactyly,... |
OMIM:136760 |
Fibrochondrogenesis |
|
Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal ... |
ORPHA:2021 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... |
ORPHA:536467 |
Lipase Deficiency, Combined |
|
Lipodystrophy |
OMIM:246650 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Deeply set eye, Short femur, Hypoplastic ilia, Congenital hip dislocati... |
ORPHA:93333 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Idiopathic Panuveitis |
|
Cystoid macular edema, Ocular hypertension, Cataract, Choroidal neovascularization, Epiretinal me... |
ORPHA:280921 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Harel-Yoon Syndrome |
|
Corneal opacity, Deeply set eye, Peripheral axonal neuropathy, Optic atrophy, Short nose, Develop... |
OMIM:617183 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lipodystrophy, Pes cavus, Lumbar hyperlordosis |
OMIM:615980 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Microcornea, Ven... |
OMIM:201000 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Cerebral atrophy, Flexion contracture, Broad nasal tip, Microcephaly, Cataract |
OMIM:617393 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... |
ORPHA:85438 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Microcornea, Iris hypopigmentation, Iris coloboma, Anterior syn... |
ORPHA:3214 |
Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Myopathy, Congenital, With Tremor |
|
High palate, Narrow mouth, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Micrognath... |
OMIM:618524 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Cataract, Abnormal metaphysis morphology, Severe short s... |
ORPHA:2780 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Flexion contracture, Micrognathia, Generalized lipodystrophy, Scoliosis, Absen... |
OMIM:614098 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Fragile X Syndrome |
|
Mandibular prognathia, Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Scoli... |
OMIM:300624 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Proptosis, Rhizomelia, Hypoplasia of th... |
ORPHA:763 |
Neurofibromatosis Type 2 |
|
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Neuroma, Glioma, Bilat... |
ORPHA:637 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... |
ORPHA:457395 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Craniosynostosis, Limited elbow extension and supination, Umbilical hern... |
ORPHA:93932 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Brachyda... |
ORPHA:40 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Keratoconus, Sh... |
ORPHA:401777 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Wide anterior fontanel, Deep plantar creases, Large for gestation... |
OMIM:616638 |
Short Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Deeply set eye, Abnormal pupil morphology, Hyp... |
ORPHA:3163 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Hypertelorism, Micrognathia, Short philtrum, Platyspondyly, Short neck, Downturne... |
ORPHA:93267 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Lumbar hyperlordosis, Inguinal hernia, Craniosynostosis, Scoliosi... |
OMIM:619451 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... |
ORPHA:536516 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Hypertelorism, Congenital... |
OMIM:222448 |
Stickler Syndrome |
|
Cleft palate, Platyspondyly, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morpholo... |
ORPHA:828 |
Cerebellar-Facial-Dental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Sparse hair, Sparse eyebrow, Limb hypertonia,... |
ORPHA:444072 |
Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Palpitations, Oligospermia, Tachycardia, Posterior subcapsular... |
OMIM:602668 |
Achondroplasia |
|
Bowing of the legs, Lumbar hyperlordosis, Neonatal short-limb short stature, Lumbar kyphosis in i... |
OMIM:100800 |
Shprintzen-Goldberg Syndrome |
|
Craniosynostosis, Aplasia/Hypoplasia of the abdominal wall musculature, Genu valgum, Proptosis, H... |
ORPHA:2462 |
Joint Laxity, Short Stature, And Myopia |
|
Osteopenia, Retinal detachment, Iris coloboma, Proptosis, Hearing impairment, Chorioretinal coloboma |
OMIM:617662 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hand muscle weakness, Flexion contracture, Shoulder girdle muscle weakness, Hyperlordosis, Congen... |
ORPHA:363454 |
Kid Syndrome |
|
Keratitis, Acne inversa, Punctate keratitis, Severe sensorineural hearing impairment, Recurrent c... |
ORPHA:477 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Inguinal hernia, Irregularly spaced teeth, Hyperextensibility of the finger jo... |
OMIM:130000 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Finger joint hypermobility, Monkey wrench femoral neck, Micromelia, Ventricular septal defect, Ge... |
OMIM:618870 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Corneal neovascularization, Uveitis, Punctate keratitis, Keratoconjunctivitis ... |
OMIM:617388 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Vertebral wedgi... |
ORPHA:1159 |
Woolly Hair |
|
Abnormal retinal morphology, Abnormal pupil morphology, Cataract |
ORPHA:170 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, Genu valgum, Sm... |
ORPHA:94068 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cellulit... |
ORPHA:1310 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Sialidosis Type 2 |
|
Corneal opacity, Flexion contracture, Inguinal hernia, Abnormal macular morphology, Osteoporosis,... |
ORPHA:87876 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Scoliosis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, ... |
OMIM:616276 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Hip contracture, Proximal muscle weakness in lower limbs, Scoliosis, Lower limb amyotro... |
OMIM:615290 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular hypertension, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Hearing i... |
OMIM:610023 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu va... |
ORPHA:56304 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Short distal phala... |
OMIM:248370 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Sparse hair, Flexion contracture, Alopecia, Brittle hair, Loss of truncal subcut... |
OMIM:608612 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Double outlet right ventricle, Hirsutism, Bicuspid aortic valve, Atrial septal... |
ORPHA:371428 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia, Metatarsal osteolysis, Hypertension, Micrognath... |
OMIM:166300 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide anterior fontanel, Syndactyly, Broad hallux, Broad thumb, Proptosis, Widow's peak, Hand poly... |
OMIM:239710 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratitis, Telangiectasia, Sensorineural hearing impairment, Corneal neovascularization, Microcep... |
OMIM:278730 |
Gapo Syndrome |
|
Amenorrhea, Hypertelorism, Dysmenorrhea, Depressed nasal bridge, Oligospermia, Joint hyperflexibi... |
ORPHA:2067 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Short Syndrome |
|
Deeply set eye, Lipoatrophy, Inguinal hernia, Small for gestational age, Micrognathia, Lipodystro... |
OMIM:269880 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... |
ORPHA:2098 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Small for gestational a... |
OMIM:615834 |
Three M Syndrome 1 |
|
Short neck, Hypoplastic pelvis, Mandibular prognathia, Intrauterine growth retardation, Thick low... |
OMIM:273750 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Joint hyperflexibility |
ORPHA:35664 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Sparse eyebrow, Sparse eyelashes, Adducted thumb, Malar flattening, Short stature, U... |
OMIM:618874 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Ocular hypertension |
OMIM:617272 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, High palate, Tricuspid valve prolapse, Mitral annular calcif... |
OMIM:154700 |
Noonan Syndrome 14 |
|
Kyphosis, Wide mouth, Hypertelorism, Sparse hair, Sparse eyebrow, High, narrow palate, Pulmonic s... |
OMIM:619745 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Bulbous nose, Relative macrocephaly, Delayed ossification of carpal bones,... |
OMIM:271510 |
Scheie Syndrome |
|
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Depressed nasal bridge, Aortic regu... |
OMIM:607016 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cerebral cortical atrophy, EEG abnormality, Convex nasal ridge, Microcephaly, Optic disc pallor, ... |
ORPHA:3173 |
Nemaline Myopathy 2 |
|
High palate, Cleft palate, Weakness of facial musculature, Increased variability in muscle fiber ... |
OMIM:256030 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Cataract, Ataxia, Short Stature, And Mental Retardation |
|
Posterior subcapsular cataract |
OMIM:300619 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Short neck, Megalocornea, Delayed eruption of teeth, ... |
ORPHA:915 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Teebi Hypertelorism Syndrome 2 |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Syndactyly, Proptosis, Hyp... |
OMIM:619736 |
Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Macrocephaly, Abnormality of ... |
ORPHA:585 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Short stature, Micrognathia, Short neck, Abnormality of d... |
ORPHA:2522 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Concentric hypertrophic cardiomyopathy, Rod-cone dyst... |
OMIM:204200 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Pierpont Syndrome |
|
Large fleshy ears, Failure to thrive, Decreased body weight, Deeply set eye, Hypertelorism, Broad... |
OMIM:602342 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Left ve... |
ORPHA:206546 |
Lateral Meningocele Syndrome |
|
High palate, Short neck, Ventricular septal defect, Proptosis, Umbilical hernia, High, narrow pal... |
ORPHA:2789 |
Late-Onset Retinal Degeneration |
|
Abnormal suspensory ligament of lens morphology, Macular degeneration, Ocular hypertension, Patch... |
ORPHA:67042 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... |
OMIM:600175 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Skin rash... |
ORPHA:290 |
Myopathy, Distal, 1 |
|
High palate, Amyotrophy of ankle musculature, Lumbar hyperlordosis, Toe extensor amyotrophy, Rimm... |
OMIM:160500 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Deeply set eye, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atro... |
ORPHA:496790 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98855 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Short stature, Scoliosis, Hyperlordosis, Cataract, Increased adipose tissue |
OMIM:617404 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Umbilical hernia, Omphalocele |
OMIM:275100 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... |
ORPHA:429 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... |
OMIM:184250 |
Norrie Disease |
|
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal... |
OMIM:310600 |
3M Syndrome |
|
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Micromelia, Hypoplasia of the ... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Carious teeth, Disproportionate short-trunk short stature, Genu valgum... |
OMIM:253200 |
Zellweger Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Corneal opacity, Macrocephaly, Wide anterior... |
ORPHA:912 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... |
OMIM:158310 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Short ribs, Metaphyse... |
OMIM:618961 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Flexion contracture, Arachnodactyly, Femoral bowing, Coronal craniosynost... |
OMIM:207410 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... |
ORPHA:2484 |
Mass Syndrome |
|
Arachnodactyly, Mitral valve prolapse, Scoliosis, Ectopia lentis |
OMIM:604308 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Macrocephaly, Inguinal hernia, Broad nasal tip, Microcephaly, Megalocornea, Proptosis, Umbilical ... |
OMIM:618354 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Inguinal hernia, Small for gestational age, Micrognathia... |
ORPHA:352490 |
Martsolf Syndrome 1 |
|
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... |
OMIM:618728 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Kyphoscoliosis, Lens subluxation, Brittle hair, Inguinal hernia, Arachnodactyly, Bic... |
OMIM:236200 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... |
OMIM:605274 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Protruding ear, Skin rash, Microcephaly, Weight loss, Cataract, Hearing impairment |
ORPHA:317 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Limited elbow extension and supination, Keratoconus, ... |
OMIM:244600 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Mitral regurgitation, Thoracolumbar scoliosis, Mitral valve prolapse, Knee flexi... |
OMIM:606631 |
Proteus-Like Syndrome |
|
Macrocephaly, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Shagreen patch, Ante... |
ORPHA:2969 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Short nose, Cataract, Hypogonadism, Hearing impairment, Sho... |
OMIM:302950 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Kniest Dysplasia |
|
Hip contracture, Tibial bowing, Delayed epiphyseal ossification, Coxa vara, Inguinal hernia, Spla... |
OMIM:156550 |
Ck Syndrome |
|
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hyperlordosis, Ab... |
OMIM:300831 |
Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Limitation of joint mobility, Hernia, Rhinitis... |
ORPHA:93476 |
Marden-Walker Syndrome |
|
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... |
OMIM:248700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Microcephaly, Retinal detachment, Retinal ... |
OMIM:251270 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophi... |
OMIM:618815 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
Hemimegalencephaly |
|
EEG with focal spikes, Macrocephaly, Gliosis, EEG with polyspike wave complexes, EEG with burst s... |
ORPHA:99802 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Slender finger, Cleft palate, Craniosynostosis, Tapered finger, Abnormal heart morph... |
ORPHA:2953 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior cortical cataract, Cerulean cataract, Posterior subcapsular cataract, Limited elbow exte... |
ORPHA:67036 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Exudative vitreoretinopathy, Osteopenia, Retinal detachment, Osteoporosis, Joint... |
ORPHA:2788 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Hypotelorism, Congenital hip dislocation, Scoliosis, L... |
OMIM:619719 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Intrauterine growth retardation, Narrow mouth, Narrow palate, Abno... |
ORPHA:1323 |
Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... |
ORPHA:97244 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of the vertebral ... |
ORPHA:1354 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Microcephaly, Gliosis, Developmental cataract |
ORPHA:357225 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Scoliosis, Amelia, Omphalocele, Foot oligodactyly |
OMIM:601357 |
Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Sparse lateral ey... |
OMIM:190350 |
Congenital Contractural Arachnodactyly |
|
High palate, Flexion contracture, Arachnodactyly, Camptodactyly of finger, Scoliosis, Mitral valv... |
ORPHA:115 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Aortic valve stenosis, Open bite, Left ventricular hypertrophy, Thic... |
OMIM:619698 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98863 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Proptosis, Short f... |
OMIM:614078 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Joint stiffness, Aortic valve stenosis, Shallow anterior chamber, Ocular hyper... |
OMIM:614819 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Truncal obesity, Retinal dystrophy |
ORPHA:75858 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Small for gestational age, Adducted... |
OMIM:616897 |
Mitral Valve Prolapse 1 |
|
High palate, High, narrow palate, Mitral regurgitation, Mitral valve prolapse, Reversed usual ver... |
OMIM:157700 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Facial hypertrichosis, Broa... |
OMIM:180849 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture |
OMIM:160565 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... |
OMIM:609223 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Growth delay, Sparse hair, Cleft palate, Everted lower lip vermilio... |
OMIM:619980 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Joint hypermobility, Microcephaly, Pigmentary retinopathy, Truncal obesity, Cataract, Hypogonadism |
OMIM:268050 |
Andersen-Tawil Syndrome |
|
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... |
ORPHA:37553 |
Kniest Dysplasia |
|
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Macrocephaly, Flexion co... |
ORPHA:485 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... |
ORPHA:166016 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Atrioventricular canal defect, Megalocornea, Proptosis, Hypoplasi... |
ORPHA:2409 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... |
ORPHA:90050 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Retinal degeneration, Brain atrophy, Cerebral atrophy, Depresse... |
OMIM:619260 |
22Q11.2 Deletion Syndrome |
|
Bulbous nose, Overfolded helix, Optic atrophy, Cataract, Umbilical hernia, Acne, Gastrointestinal... |
ORPHA:567 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Femoral bowing, Abnormality of the dentition, Biconcave vertebra... |
ORPHA:666 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Severe short stature, Malar flattening, Tongue-like lumbar vertebral deform... |
OMIM:264180 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short toe, Wide anterior fontanel, Hirsutism, Inguinal hernia, Micrognathia, Micromelia, Short ph... |
OMIM:225410 |
Larsen-Like Syndrome |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Kyphoscoliosis, Talipes equinovarus, Bipa... |
OMIM:608545 |
Hunter-Macdonald Syndrome |
|
Short philtrum, Premature osteoarthritis, Umbilical hernia, Epiphyseal dysplasia, Clinodactyly of... |
OMIM:611962 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Hypertelorism, Inguinal hernia, Abnormality of ... |
ORPHA:2412 |
Autoinflammatory-Pancytopenia Syndrome |
|
Lipodystrophy, Failure to thrive |
OMIM:619858 |
Warburg Micro Syndrome 2 |
|
Flexion contracture, Microcephaly, Microcornea, Optic atrophy, Asymmetry of the ears, Short nose,... |
OMIM:614225 |
Tetrasomy 5P |
|
Failure to thrive, Wide anterior fontanel, Clinodactyly of the 5th finger, Overlapping toe, Talip... |
ORPHA:3309 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Facial hirsutism, Microcornea, Absent proximal finger flexion creases, Aplasia/Hypo... |
ORPHA:2839 |
Mucolipidosis Type Iv |
|
Corneal opacity, Abnormality of retinal pigmentation, EEG abnormality, Retinopathy, Microcephaly,... |
ORPHA:578 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel, Deeply set eye, Long eyelashes, Synophrys, Failure to thrive in infancy |
OMIM:619064 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Macroglossia, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Noonan Syndrome 10 |
|
High palate, Mitral stenosis, Atrial septal defect, Sparse eyebrow, Short stature, Pulmonic steno... |
OMIM:616564 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Prominent fingertip pads, Sandal gap, Intrauterine growth retardation, Persistent fe... |
OMIM:612863 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Catarac... |
ORPHA:2310 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Loss of gluteal subcutaneous adipose tissue, Prim... |
OMIM:604367 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Brachydactyly, Lipodystrophy, Failure to thrive, Clinodactyly |
OMIM:618048 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation, Hyp... |
OMIM:300434 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Iridocyclitis, Chronic active hepatitis, Chronic oral c... |
OMIM:240300 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... |
ORPHA:40366 |
Aredyld Syndrome |
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Lipoatrophy, Sparse body hair, Cachexia, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Scolio... |
ORPHA:1133 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Abnormal antihelix morphology, Hypoplasia of the antihelix, Cataract, Hearing impairment, Chorior... |
ORPHA:2489 |
Iridocorneal Endothelial Syndrome |
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Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility |
OMIM:615225 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
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Optic atrophy, Cataract, Sensory axonal neuropathy, Adult onset sensorineural hearing impairment |
ORPHA:329314 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Mucopolysaccharidosis, Type Vii |
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Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Coarse hair, Genu valgum, Umbili... |
OMIM:253220 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Premature loss of teeth, Metaphyseal dysplasia, Short stature, Thin vermilion border, Flared meta... |
OMIM:156510 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Camptodactyly... |
OMIM:300280 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... |
ORPHA:363417 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Autosomal Recessive Centronuclear Myopathy |
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High palate, Hip contracture, Narrow mouth, Facial diplegia, Retrognathia, Left ventricular hyper... |
ORPHA:169186 |
Flynn-Aird Syndrome |
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Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Incr... |
OMIM:136300 |
Wieacker-Wolff Syndrome |
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High palate, Kyphosis, U-Shaped upper lip vermilion, Congenital foot contractures, Short stature,... |
OMIM:314580 |
Emery-Dreifuss Muscular Dystrophy |
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Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... |
ORPHA:98853 |
Sick Sinus Syndrome 2 |
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Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Senior-Loken Syndrome |
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Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density, Cata... |
ORPHA:3156 |
Juvenile Glaucoma |
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Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Ocular hyper... |
ORPHA:98977 |
Acrocapitofemoral Dysplasia |
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Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... |
ORPHA:63446 |
Axenfeld-Rieger Syndrome, Type 3 |
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Sensorineural hearing impairment, Ectopia pupillae, Posterior embryotoxon, Proptosis, Hypoplasia ... |
OMIM:602482 |
Alpha-Mannosidosis, Adult Form |
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Corneal opacity, Cerebral cortical atrophy, Osteopenia, Mixed hearing impairment, Optic disc pall... |
ORPHA:309288 |
Non-Syndromic Bicoronal Craniosynostosis |
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Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly |
ORPHA:35099 |
Phenobarbital Embryopathy |
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Abnormal mitral valve morphology, Malar flattening, Brachydactyly, Tetralogy of Fallot, Unilatera... |
ORPHA:1919 |
Orofaciodigital Syndrome Viii |
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Short tibia, Hypertelorism, Syndactyly, Polydactyly |
OMIM:300484 |
Warburg Micro Syndrome 3 |
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Cerebral cortical atrophy, Shallow anterior chamber, Flexion contracture, Microcephaly, Microcorn... |
OMIM:614222 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Tape... |
ORPHA:970 |
Atelosteogenesis Type I |
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Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
Acquired Partial Lipodystrophy |
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Generalized hirsutism, Lipoatrophy |
ORPHA:79087 |
20P12.3 Microdeletion Syndrome |
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Wolff-Parkinson-White syndrome, Narrow mouth, Atrial septal defect, Malar flattening, Short statu... |
ORPHA:261295 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Sjogren-Larsson Syndrome |
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Macular degeneration, Flexion contracture, Opacification of the corneal epithelium, Retinal thinn... |
OMIM:270200 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Lethal Kniest-Like Dysplasia |
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Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Short ribs, Hypoplasti... |
ORPHA:2347 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Proptosis, Multinucleat... |
OMIM:108720 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... |
ORPHA:1427 |
Robinow Syndrome, Autosomal Recessive 1 |
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Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... |
OMIM:268310 |
8P11.2 Deletion Syndrome |
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High palate, Growth delay, Atrial septal defect, Short stature, Micrognathia, Microcornea, Mitral... |
ORPHA:251066 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Panuveitis, Posterior uveitis, Cataract, Weight loss, Scleritis, Macular edema, Vitreous hemorrha... |
ORPHA:91500 |
Hypoplastic Femurs And Pelvis |
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Hypoplastic pelvis, Short femur |
OMIM:619545 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Microcornea, Thoracic kyphoscoliosis, Hip subluxation, Arterial rupture, Umbilical hernia, Limb m... |
ORPHA:1900 |
Cherubism |
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Optic atrophy, Proptosis, Bone cyst |
ORPHA:184 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Fa... |
OMIM:175780 |
Idiopathic Localized Lipodystrophy |
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Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Hip contracture, Hypertelorism, Flexion contracture, Micrognathia, Scoliosis, Upper limb muscle w... |
ORPHA:1143 |
Oculocerebrodental Syndrome |
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Metaphyseal dysplasia, Short stature, Retrognathia, Abnormality of the dentition, Oligodontia, Sc... |
ORPHA:557003 |
Lethal Osteosclerotic Bone Dysplasia |
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Gingival overgrowth, Retrognathia, Delayed cranial suture closure, Micrognathia, Short neck, Ging... |
ORPHA:1832 |
Cap Myopathy |
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High palate, Thoracic scoliosis, Lumbar hyperlordosis, Abnormal muscle fiber morphology, Facial p... |
ORPHA:171881 |
Neonatal Adrenoleukodystrophy |
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Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Abnormality of retinal pi... |
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