Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... |
OMIM:619598 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... |
ORPHA:93388 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara... |
OMIM:601344 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... |
OMIM:616583 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex... |
OMIM:184255 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Ab... |
ORPHA:85198 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ... |
OMIM:618395 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Coxa... |
OMIM:616716 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... |
OMIM:249600 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Gurrieri Syndrome |
|
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Short sta... |
OMIM:601187 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Severe short stature, Tapered finger, Joint stiffness, Squared ili... |
ORPHA:2746 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Knee dislocation, Irregular vertebral endplates, Microretrognathia, Short stature, ... |
OMIM:618363 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat... |
OMIM:609324 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... |
OMIM:609813 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... |
ORPHA:2249 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... |
ORPHA:1782 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Ovoid vertebral bodies,... |
OMIM:132400 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... |
OMIM:171480 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Joint laxity, Pes planus, Arachnodactyly, Increased arm span, Scoliosis |
OMIM:618793 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... |
OMIM:620269 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... |
ORPHA:2491 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Richieri Costa-Da Silva Syndrome |
|
Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver... |
ORPHA:3101 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Pes planus, Arachnodactyly, Large hands, Thoracic kyphosis |
OMIM:300263 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases |
ORPHA:1548 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Pes planus, Short metacarpal, Joint laxity, Short stature, Camptodactyly of finger, K... |
OMIM:612350 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh... |
OMIM:602471 |
Haim-Munk Syndrome |
|
Pes planus, Congenital palmoplantar hyperkeratosis, Arachnodactyly, Osteolytic defects of the pha... |
OMIM:245010 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver... |
ORPHA:2916 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Broad hallux, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxia... |
ORPHA:3433 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr... |
ORPHA:40 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... |
OMIM:184253 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... |
ORPHA:1040 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Disproportionate short ... |
OMIM:222765 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo... |
OMIM:614727 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic v... |
OMIM:101800 |
Shox-Related Short Stature |
|
Short stature, Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, ... |
ORPHA:314795 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... |
ORPHA:157965 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5t... |
ORPHA:2163 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Arachnodactyly, Short stature, Joint stiffness |
ORPHA:1144 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... |
OMIM:230600 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume... |
OMIM:164745 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... |
OMIM:212780 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating... |
ORPHA:280356 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture, Disp... |
ORPHA:263463 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, M... |
OMIM:609052 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto... |
ORPHA:2616 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology,... |
ORPHA:1988 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Pes planus, Tapered finger, Obesity, Short foot, Pes cavus |
OMIM:309585 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Metatarsus adductus, Avascular... |
ORPHA:2557 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dislocation, Intrauter... |
ORPHA:96183 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Pes planus, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Short stature, Small hand, C... |
OMIM:617755 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... |
OMIM:609325 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the femoral head, ... |
OMIM:618641 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati... |
ORPHA:75840 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Sho... |
ORPHA:2994 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... |
ORPHA:93356 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Failure... |
OMIM:610758 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Ankle contracture, Spinal rigidity, Scoliosis... |
OMIM:620386 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum |
OMIM:255710 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Joint laxity, Thoracic kyphosis, Arachnodactyly |
ORPHA:2172 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f... |
ORPHA:163649 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... |
OMIM:605274 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Pes planus, Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, G... |
OMIM:619721 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... |
OMIM:201170 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, A... |
OMIM:618011 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot |
OMIM:300977 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Ck Syndrome |
|
Long toe, Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Slender build, J... |
ORPHA:251383 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Lamb-Shaffer Syndrome |
|
Pes planus, Overlapping toe, Long fingers, Vertebral clefting, Scoliosis, Clinodactyly, Long hallux |
OMIM:616803 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin... |
OMIM:618484 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Scoliosis, Pes c... |
ORPHA:3115 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri... |
ORPHA:1860 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni... |
OMIM:300232 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... |
OMIM:102370 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Short finger, Tapered finger |
OMIM:302000 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia |
ORPHA:357175 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Short stature, Kyphosis, Absen... |
OMIM:108145 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Severe short stature, Tapered finger, Split hand, Split foot, Scoliosis |
OMIM:220600 |
Smith-Mccort Dysplasia 2 |
|
Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, Short stature, Hyperlord... |
OMIM:615222 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Pes planus, Joint laxity, Arachnodactyly, Long fingers, Pseudoepiphyses ... |
OMIM:619543 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia |
OMIM:615162 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
|
Pes planus, Arachnodactyly, Joint contracture of the 5th finger |
OMIM:300799 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Hyperlordosis, Hypop... |
OMIM:184250 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Acromegaloid Facial Appearance Syndrome |
|
Micrognathia, Tapered finger, Large for gestational age, Large hands, Short 5th metacarpal, Joint... |
OMIM:102150 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Elbow flexion contracture... |
OMIM:277720 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Arachnodactyly, Micrognathia, Scoliosis, Intrauterine growth retardation |
OMIM:301006 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte... |
ORPHA:79255 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Short stature, Micrognathia, Growth delay, Joint hyperflexi... |
ORPHA:251019 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Long foot, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Hypoplasia of the ... |
OMIM:607143 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... |
ORPHA:85172 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the... |
OMIM:614900 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis, Abnormal foot morphology, Split hand, Upper limb amyotrophy, Hammertoe, Distal up... |
ORPHA:99950 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... |
ORPHA:3098 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Proximal muscle weakness in upper limbs, Ankle flexion contracture, Kyphoscoliosis, Calf muscle h... |
OMIM:616668 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... |
OMIM:610797 |
Congenital Generalized Lipodystrophy |
|
Low anterior hairline, Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Large hands, Oligom... |
ORPHA:528 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... |
ORPHA:505237 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vert... |
ORPHA:1837 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
Parana Hard Skin Syndrome |
|
Growth delay, Short stature, Restricted chest movement, Tapered finger |
ORPHA:2812 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... |
ORPHA:356961 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... |
OMIM:610968 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp... |
ORPHA:2319 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature... |
OMIM:600373 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Short stature, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint h... |
ORPHA:2058 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Short stature, Kyphoscoliosis |
OMIM:615541 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Hammertoe, Pes cavus, Kyphoscoliosis |
OMIM:180800 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus |
OMIM:604563 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Thoracic kyphosis, Clinodactyly, Pes cavus |
OMIM:619092 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender finger |
OMIM:620393 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... |
ORPHA:1836 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Scolio... |
OMIM:236200 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthri... |
OMIM:108300 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus |
OMIM:118220 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ... |
OMIM:607323 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f... |
ORPHA:1154 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible ... |
OMIM:275900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Pes planus, Osteopenia, Arachnodactyly, Short stature, Kyphoscoliosis, Palmoplantar cut... |
ORPHA:75496 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Failure to thrive, Jo... |
OMIM:600118 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Short stature, Postaxial polydac... |
ORPHA:397715 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fu... |
OMIM:614078 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hydrops fetalis, Telangiectasia, Hepatosplenomegaly, Biventricular hypertrophy,... |
ORPHA:101028 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco... |
OMIM:615349 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Short neck, Long fingers, Bul... |
ORPHA:1617 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox... |
OMIM:617425 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyc... |
OMIM:612526 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Short stature, Cachexia, Micrognathia, Short neck, Small hand, E... |
ORPHA:371364 |
Nemaline Myopathy 7 |
|
Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, Shou... |
OMIM:610687 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Arachnodactyly, Hemivertebrae, Scoliosis, Failure to thrive, Decreased body mass i... |
ORPHA:370079 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Severe short st... |
OMIM:231070 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Scoliosis, Brachyd... |
ORPHA:776 |
Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Short neck, Micrognathia, Intrauterine ... |
ORPHA:1707 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho... |
OMIM:251230 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short stature, Short neck, Joint stiff... |
OMIM:252940 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Hemivertebrae, Vertebral wedging, Sc... |
ORPHA:377 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Coffin-Siris Syndrome 5 |
|
Sandal gap, Arachnodactyly, Short stature, Intrauterine growth retardation, Short distal phalanx ... |
OMIM:616938 |
Alpha-2-Deficient Collagen Disease |
|
Arachnodactyly |
OMIM:203760 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scolio... |
OMIM:230500 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Mass Syndrome |
|
Arachnodactyly, Scoliosis |
OMIM:604308 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Short stature, Hepat... |
ORPHA:369 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl... |
OMIM:601559 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Hip dislocation,... |
OMIM:616507 |
Stickler Syndrome, Type Ii |
|
Long fingers, Arachnodactyly, Joint hypermobility, Micrognathia |
OMIM:604841 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Limitation of joint mobility, Arachnodactyly, Hip dislocation |
ORPHA:171719 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Pes planus, Sandal gap, Arachnodactyly, Short stature, Flexion contracture, Hip dysplasia, Talipe... |
OMIM:617146 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Broad hallux, Broad thumb, Short stature |
OMIM:272200 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Short neck, Progressive intervertebral spa... |
ORPHA:1716 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus |
OMIM:118200 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Kyphoscoliosis, Abnormal toe morphology, Obesity, Distal lower limb muscle weakness, Pes cavus |
ORPHA:459033 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2759 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Polyhydramnios, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Intrauterine growth... |
OMIM:222470 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype... |
OMIM:618625 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r... |
OMIM:619345 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Short neck, Wide anterior fontanel, Kyphosis, Postnatal growth reta... |
OMIM:248700 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplantar keratod... |
ORPHA:2824 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Acanthosis nigric... |
OMIM:246200 |
Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Talipes equinovarus, Radial ... |
OMIM:608545 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re... |
OMIM:263750 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto... |
ORPHA:2804 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Kuskokwim Syndrome |
|
Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form of the vertebral bodie... |
ORPHA:1149 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly |
ORPHA:261243 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb... |
ORPHA:83468 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici... |
OMIM:604367 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognat... |
OMIM:610756 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Mic... |
OMIM:214150 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Lo... |
ORPHA:73272 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Micrognathia, Abnormal form of the vertebral bodies, V... |
ORPHA:52 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Epicanthus, Renal insufficiency, Short stature, Cryptorch... |
ORPHA:2377 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... |
ORPHA:79240 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... |
OMIM:130070 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... |
ORPHA:2980 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Arachnodactyly, Joint hypermobility, Scoliosis |
OMIM:619013 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Micrognathia, Elb... |
OMIM:264180 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Sho... |
OMIM:618348 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Deviation of the... |
ORPHA:391408 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... |
OMIM:617604 |
Transaldolase Deficiency |
|
Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Patent duc... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... |
OMIM:611209 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... |
ORPHA:101330 |
Central Core Disease |
|
Joint laxity, Pes planus, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis... |
ORPHA:597 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... |
ORPHA:436003 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Elbow flexion c... |
OMIM:272430 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short... |
OMIM:180870 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Diabet... |
ORPHA:100 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis |
OMIM:146720 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Porphyrinuria, Hepatic fibrosis, Fragile skin, Hypertrichosis |
OMIM:176090 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... |
ORPHA:231226 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Pes planus, Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Ulnar claw, Distal lower limb muscl... |
OMIM:145900 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Obesity, Genu valgum, Scolio... |
OMIM:300602 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Split hand, Scoliosis |
OMIM:614707 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis... |
ORPHA:93329 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Obesity, Tapered finger |
ORPHA:85274 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Urinary incontine... |
ORPHA:263487 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short stature, Micrognathia, Short neck, Calcaneovalgus deformity, Flexion contra... |
ORPHA:562528 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Skin rash, Tapered finger, Abnormal hair morphology, ... |
ORPHA:317 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th... |
ORPHA:2463 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr... |
OMIM:616145 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increased serum iron, ... |
ORPHA:446 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I... |
OMIM:615285 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Kyphoscoliosis |
OMIM:271200 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Broa... |
OMIM:300280 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... |
ORPHA:1354 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Increased vertebral height, Scoliosis, Camptodactyly, Camptodactyly of toe, Broad... |
OMIM:610474 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Short stature, Micrognathia |
ORPHA:93946 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Micrognathia, Kypho... |
ORPHA:193 |
Nicolaides-Baraitser Syndrome |
|
Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelashes, Highly arched eye... |
ORPHA:3051 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:614846 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... |
OMIM:616817 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:617872 |
Congenital Myopathy 23 |
|
Scapular winging, Flexion contracture, Kyphoscoliosis |
OMIM:609285 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... |
OMIM:208500 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu... |
OMIM:231100 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis |
OMIM:236660 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Abdominal obesity, Talipes equinovarus, Scoliosis, Camptodactyly |
OMIM:301039 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Elevated cir... |
OMIM:232400 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Proximal femoral metaphyseal irregularity, Disproportionate short-trun... |
OMIM:602271 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Tapered finger, Long fingers, Clinodactyly of the 5th finger, Failure ... |
OMIM:609425 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi... |
OMIM:193700 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Brachydactyly, Abnormality of subcutaneous fat tissu... |
ORPHA:79325 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o... |
ORPHA:3130 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure |
OMIM:619011 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Flex... |
OMIM:215150 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper... |
OMIM:226980 |
Proteus Syndrome |
|
Kyphoscoliosis, Facial hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Calvari... |
OMIM:176920 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... |
ORPHA:231214 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Ankle clonus, Scolio... |
OMIM:615398 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Arachnodactyly, Short stature, Reduced bone mineral density, Delayed puberty, Osteopo... |
ORPHA:243 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Abnormality of the amniotic fluid, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterol... |
OMIM:212065 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala... |
OMIM:617950 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Elevated circulati... |
OMIM:610717 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hammertoe, Ulnar claw, Hepatic steatosis, Mildly elevated creatine... |
OMIM:618400 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation |
OMIM:614100 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Dyspareunia, Abnormal fingerna... |
ORPHA:1334 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Pes planus, Arachnodactyly, Short stature, Hyperlordosis, Micrognathia, Scoliosis, ... |
OMIM:300986 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Short stature, Osteomyelitis, Skin ra... |
ORPHA:47 |
13Q12.3 Microdeletion Syndrome |
|
Short stature, Kyphoscoliosis, Obesity, Hip dysplasia, Camptodactyly, Intrauterine growth retarda... |
ORPHA:412035 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Arachnodactyly, Scoliosis, Toe clinodactyly |
OMIM:619910 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Low anterior hairline, Short metatarsal, Prominent interphalangeal joints, Sparse hair,... |
OMIM:601358 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... |
OMIM:618853 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Mesoaxial hand polyd... |
OMIM:615996 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Slender build, Arachnodactyly, Scoliosis |
OMIM:617600 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Repeated implantation failure, Female infertility, Formation of multiple pronuclei during fertili... |
OMIM:619176 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Short stature, Congenital hepatic fibrosis, Chronic kidney disea... |
ORPHA:3156 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Low... |
ORPHA:35173 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... |
ORPHA:319195 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Flexion contracture, Hip dislocation, Hype... |
ORPHA:481152 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:619751 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Type II diabetes mellitus, Generalized hirsutism, Delayed puberty |
ORPHA:2297 |
Dystonia-Deafness Syndrome 1 |
|
Kyphoscoliosis, Hypoplastic scapulae, Small for gestational age, Femoral retroversion |
OMIM:607371 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Polyhydramnios, Cardiomegaly, Large for gestational age, Low anterior hair... |
ORPHA:363705 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... |
ORPHA:1858 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr... |
OMIM:606069 |
Wilson-Turner Syndrome |
|
Pes planus, Short stature, Micrognathia, Tapered finger, Small hand, Short foot, Truncal obesity,... |
ORPHA:3459 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Clinodactyly of the 5th finger, Pes planus, Tapered finger |
OMIM:618147 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Premature birth, Decreased serum iron, Wid... |
OMIM:614602 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia o... |
ORPHA:96097 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Growth delay, Hip dysp... |
ORPHA:447980 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkera... |
ORPHA:69125 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypoplastic fingernail, Hypospadias, Small for gestational age, Dysmen... |
ORPHA:397590 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... |
OMIM:619638 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Arachnodactyly, Scoliosis |
ORPHA:171844 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Small hand, Obesity, Scoliosis, Pe... |
OMIM:300055 |
Laron Syndrome |
|
Limb undergrowth, Short long bone, Severe short stature, Delayed menarche |
OMIM:262500 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Joint laxity, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of t... |
OMIM:613776 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Short stature, Coxa valga, Elbow dislocation, Metaphyse... |
OMIM:620083 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Hypertriglyceridem... |
OMIM:300635 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Hemi... |
OMIM:302960 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... |
OMIM:210600 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, C... |
ORPHA:465508 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot, Blepharophimosis, Microphthalmia, Premature skin wrinkling, Short pal... |
OMIM:601349 |
Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,... |
ORPHA:84064 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormal circulating lipid concentratio... |
ORPHA:381 |
Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Kyphosis, Flexio... |
OMIM:615547 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Joint hypermobility, Kyphoscoliosis |
ORPHA:300179 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Micrognathia, Long fingers, Ulnar deviation of finger, Failure to thrive, Slende... |
ORPHA:1895 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, ... |
ORPHA:2348 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... |
ORPHA:2307 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ... |
ORPHA:3409 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Sandal gap, External genital hypoplasia, Elevated ci... |
ORPHA:79322 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Ulnar claw, Hammertoe, Kyphoscoliosis |
OMIM:214400 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:616354 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Epicanthus, Telecanthus, Ulnar deviation of the hand, Polyhydramnios,... |
OMIM:263210 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, ... |
OMIM:615539 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Lack of facial subcutaneous fat, Microcytic anemia, T lymphocytopenia, Decreased serum estradiol,... |
ORPHA:2959 |
Coffin-Siris Syndrome 6 |
|
Short stature, Kyphoscoliosis, Micrognathia, Clinodactyly, Brachydactyly |
OMIM:617808 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Slender finger, Short neck |
OMIM:613192 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo... |
ORPHA:536532 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Elbow... |
OMIM:615656 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ... |
OMIM:617021 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Short stature, Kyphoscoliosis, Split hand, Talipes equinovarus, Pes cavus |
OMIM:604168 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Abno... |
OMIM:300855 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Repeated implantation failure, Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Zygotic cleavage failure |
OMIM:619009 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... |
ORPHA:2462 |
Joint Laxity, Short Stature, And Myopia |
|
Short stature, Cervical kyphosis, Kyphoscoliosis, Talipes equinovarus, Joint hypermobility |
OMIM:617662 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Long palm, Tape... |
ORPHA:2215 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Bicuspid aortic valve, Redundant skin, Synophrys, Low anterior hairline, Coarse ha... |
OMIM:612289 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Abnormal preimplantation embryonic development, Female infertility |
OMIM:619697 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypoproteinemia, Decrease... |
ORPHA:247585 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Pes planus, Osteopenia, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:130060 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Obesit... |
OMIM:618443 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt... |
ORPHA:1692 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, H... |
OMIM:619487 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
Distal Duplication 17Q |
|
Hallux valgus, Joint laxity, Severe short stature, Overlapping toe, Arachnodactyly, Rhizomelia, M... |
ORPHA:3379 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointer... |
OMIM:616629 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... |
OMIM:210710 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hem... |
OMIM:608709 |
Rahman Syndrome |
|
Talipes equinovarus, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio... |
OMIM:304150 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Short Stature, Brussels Type |
|
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of... |
ORPHA:2867 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Seckel Syndrome 8 |
|
Short stature, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Areflexia of upper limbs, Intrinsic hand muscle atrophy, Clubbing of fingers, Are... |
OMIM:619574 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Postnatal growth retardation,... |
OMIM:612513 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J... |
ORPHA:90354 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Erythema, Sk... |
ORPHA:2584 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Pes planus, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Microgna... |
OMIM:182212 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora... |
ORPHA:3404 |
Leukodystrophy, Hypomyelinating, 17 |
|
Growth delay, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... |
OMIM:619858 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio... |
OMIM:619180 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm, Intrauterine growth retardation |
ORPHA:73246 |
Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Pes cavus, Kyphoscoliosis |
ORPHA:101081 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinod... |
OMIM:617602 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Ca... |
ORPHA:824 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Kyphoscoliosis, Micrognathia, Severe generalized ... |
OMIM:210730 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sacral dimple, Sandal gap, Short stature, Long fingers, Limitation of joint... |
ORPHA:261279 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse... |
ORPHA:536471 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... |
OMIM:616719 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Sparse hair, Syndactyly, Hypospadias, ... |
OMIM:614091 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat... |
OMIM:617093 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Joint st... |
ORPHA:83 |
Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Atrial septal defect, Short stature, Ventricular septal defect, Polyhydra... |
OMIM:615355 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Bilateral ... |
ORPHA:488642 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Pes cavus, Kyphoscoliosis |
OMIM:605588 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Neonatal omphalitis, Inflammat... |
OMIM:615895 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... |
OMIM:301045 |
Hydatidiform Mole, Recurrent, 3 |
|
Hydatidiform mole, Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Hydatidiform mole, Female infertility |
OMIM:618432 |
Spondyloocular Syndrome |
|
Long toe, Pes planus, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Short stature,... |
OMIM:605822 |
Adams-Oliver Syndrome |
|
Leukopenia, Absent fingernail, Sparse hair, Pulmonary artery atresia, Encephalocele, Finger synda... |
ORPHA:974 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Short stature, 2-3 toe syndactyly, Scoliosis |
ORPHA:391307 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia |
OMIM:100700 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Loeys-Dietz Syndrome 6 |
|
Pes planus, Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral di... |
OMIM:619656 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Thoracolu... |
ORPHA:230851 |
Mucolipidosis Iii Gamma |
|
Short stature, Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis... |
OMIM:252605 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion... |
OMIM:619479 |
Congenital Myopathy 12 |
|
Arachnodactyly, Small for gestational age, Jaw contracture, Camptodactyly, Overlapping fingers, J... |
OMIM:612540 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Non-Distal Duplication 13Q |
|
Postaxial hand polydactyly, Arachnodactyly, Micrognathia |
ORPHA:1702 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga... |
OMIM:208085 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Sparse hair, Atrial septal defect, Decreased circulat... |
OMIM:620005 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... |
ORPHA:280365 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Sma... |
OMIM:613320 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99413 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s... |
ORPHA:498359 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:881 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Portal hyper... |
OMIM:216360 |
Neuhauser Syndrome |
|
Osteopenia, Pes planus, Genu recurvatum, Arachnodactyly, Short stature, Micrognathia, Genu valgum... |
OMIM:249310 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda... |
OMIM:618659 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis |
OMIM:619099 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of... |
OMIM:616331 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... |
ORPHA:95699 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo... |
OMIM:615066 |
Baralle-Macken Syndrome |
|
Pes planus, Kyphosis, Obesity, Tapered finger |
OMIM:619255 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Micrognathia, Tapered finger, Short distal phal... |
OMIM:181180 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Short stature, Aplastic anemia, Dilated cardiomyopathy, Palmopl... |
OMIM:613989 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly,... |
OMIM:615630 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Hirsutism, ... |
OMIM:269700 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... |
ORPHA:435660 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Pes planus, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly o... |
ORPHA:261330 |
Pierpont Syndrome |
|
Short palm, Prominent fingertip pads, Telecanthus, Short stature, Cryptorchidism, Short toe, Unil... |
OMIM:602342 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Short stature, Hip dislocation, Kyphoscoliosis |
ORPHA:101003 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Plantar hyperkeratosis, Abnormal trabecular bone morphology, ... |
ORPHA:2909 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Amniotic constriction ring, Ho... |
ORPHA:494 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent... |
OMIM:611182 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Tracheomalacia, Mic... |
OMIM:300373 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Increased urine succinate level, Elevated... |
OMIM:619048 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Pes cavus |
OMIM:601455 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ... |
OMIM:230650 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Achilles tendon contracture, Kyphoscoliosis |
ORPHA:370980 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont... |
ORPHA:314588 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T... |
ORPHA:3201 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Abnormal reprodu... |
ORPHA:70472 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Short stature, Limb joint contracture, Kyphoscoliosis, Delayed puberty |
OMIM:612079 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Sparse hair, Atrial septal defect, Dystrophic fingernails, Prematur... |
ORPHA:1340 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti... |
ORPHA:955 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Talipes equinovarus, Hepatosplenomegaly |
ORPHA:466794 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Acrocraniofacial Dysostosis |
|
Short stature, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the v... |
ORPHA:949 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Short neck, Large for gestational age, Flexion con... |
ORPHA:96334 |
Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Limit... |
ORPHA:319171 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal... |
OMIM:163200 |
Foxg1 Syndrome |
|
Short stature, Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight |
ORPHA:561854 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Micrognathia, Short neck... |
ORPHA:251028 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:619386 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Decreased body weight, Short stature, Tapered finger |
OMIM:619033 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Long fingers, Mild short stature, Tapered finger |
OMIM:618292 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Finger clinodactyly, Sh... |
ORPHA:79474 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly |
OMIM:616166 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Increased body weight, Hepatic steatosis, Alopecia, Acne, Increased circulating cortiso... |
ORPHA:189427 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Inflammation of the large intestine, Elevated... |
OMIM:614576 |
Acquired Partial Lipodystrophy |
|
Proteinuria, Progeroid facial appearance, Lymphocytosis, Microscopic hematuria, Hepatic steatosis... |
ORPHA:79087 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... |
ORPHA:392 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Kyphoscolios... |
OMIM:309583 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short iliac bones, Me... |
OMIM:607944 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
Loeys-Dietz Syndrome 5 |
|
Pes planus, Scapular winging, Arachnodactyly, Short stature, Kyphoscoliosis, Failure to thrive in... |
OMIM:615582 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ethylmalonic aciduria, Increase... |
ORPHA:26792 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Short stature, Tapered finger, Truncal obesity, Cubitus valgus, Bilateral single transverse palma... |
ORPHA:85280 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Kyphoscoliosis |
OMIM:607855 |
Nephrotic Syndrome, Type 11 |
|
Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Micrognathia |
OMIM:616730 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... |
ORPHA:89838 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop... |
OMIM:253010 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wastin... |
ORPHA:562 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis... |
OMIM:253200 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot... |
OMIM:209900 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Wide pen... |
ORPHA:3455 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Microcytic anemia, Dry skin, Cutis laxa, Coloboma, Hyperke... |
OMIM:612379 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... |
OMIM:609128 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Fa... |
OMIM:619542 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Metaphyseal widening, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia,... |
OMIM:617303 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodac... |
ORPHA:85279 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Low anterior h... |
OMIM:608779 |
Bloom Syndrome |
|
Facial erythema, Clinodactyly of the 5th finger, Decreased circulating IgG level, Hepatic steatos... |
OMIM:210900 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Large hands, Umbilical her... |
OMIM:608594 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Kyphoscoliosis |
OMIM:301107 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Failure to thrive, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, ... |
OMIM:105650 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... |
OMIM:240300 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Prematurely aged appearance, S... |
ORPHA:902 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... |
OMIM:613390 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Joint laxity, Tapered finger, Long fingers, Talipes equinovarus, Scoliosis, Prominent fingertip p... |
OMIM:617773 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Sparse hair, Tiger tail banding, Decreased circulating IgG level, Trichoschisis, Sh... |
OMIM:601675 |
3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Acanthosis nigricans, Hepa... |
ORPHA:79084 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Short Syndrome |
|
Telecanthus, Prominent superficial veins, Small for gestational age, Rieger anomaly, Insulin-resi... |
OMIM:269880 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow |
ORPHA:363523 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Broad toe, Hypospadias, Premature birth, Facial wrinkling, Optic nerve hypopla... |
ORPHA:93932 |
Basan Syndrome |
|
Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of toes, Palmoplantar kerat... |
OMIM:129200 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pes planus, Single transverse palmar crease, Broad thumb, Scoliosis, Clinodactyly of the 5th fing... |
ORPHA:329224 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibilit... |
ORPHA:96169 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Oligomenorrhea, Acanthosis nigricans, ... |
OMIM:613877 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Arachnodactyly, Craniosyno... |
OMIM:616914 |
15Q Overgrowth Syndrome |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnoda... |
ORPHA:314585 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Portal hypertension, Retinal telangiectasia, Premature graying of hair, Growth dela... |
OMIM:617341 |
Monosomy 18P |
|
Short stature, Kyphoscoliosis, Micrognathia, Short neck, Brachydactyly |
ORPHA:1598 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma... |
ORPHA:742 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypo... |
ORPHA:247768 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh... |
OMIM:102500 |
Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... |
OMIM:613404 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis... |
OMIM:266920 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic... |
OMIM:618955 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Frontal balding, Wide nasal bridge, Microphthalmia, Premature skin wrinkling |
ORPHA:1942 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis, Pte... |
ORPHA:525 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Amniotic constriction ring, Palmoplantar hyperkeratosi... |
OMIM:212360 |
Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Leukodystrophy, Hypomyelinating, 10 |
|
Failure to thrive, Arachnodactyly |
OMIM:616420 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... |
ORPHA:199299 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth... |
OMIM:618005 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri... |
OMIM:307800 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy... |
OMIM:610199 |
Bainbridge-Ropers Syndrome |
|
Pes planus, Arachnodactyly, Scoliosis |
ORPHA:352577 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Oligohydramnios, Cholestasis, Hepatosplenomegal... |
ORPHA:541423 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Cirrho... |
ORPHA:363400 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Proportionate short stature, Short toe, Obesity, Widely spaced toes, Joint hyperm... |
ORPHA:404443 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly, Recurrent respiratory infections, Large for gestational age |
ORPHA:2432 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Microphthalmia, Syndromic 13 |
|
Short stature, Kyphoscoliosis |
OMIM:300915 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Wide nasal ... |
OMIM:264470 |
Pierpont Syndrome |
|
Telecanthus, Small for gestational age, Cryptorchidism, Abnormal subcutaneous fat tissue distribu... |
ORPHA:487825 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo... |
ORPHA:822 |
Joubert Syndrome 37 |
|
Hepatomegaly, Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Wide nasal bridge, H... |
OMIM:619185 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Micrognathia |
ORPHA:1129 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Short neck, Flexion contractu... |
OMIM:618947 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... |
OMIM:126550 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Joint hyperflexibility, Talipes eq... |
OMIM:614816 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... |
OMIM:251880 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Epicanthus, Finger syndactyly, Hypospadias, Toe clinodactyly, Sandal gap, Atri... |
ORPHA:254346 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Short stature, Upslanted palpebral fissure, Growth delay, Hypogonadism, Microphthalmia |
ORPHA:2528 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Arachnodactyly, Generalized joint laxity, Scoliosis, Palmoplantar cutis laxa |
OMIM:130080 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Overlapping toe, Down-sloping shoulders, Short stature, Tapered finger, Short neck... |
OMIM:617452 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o... |
ORPHA:3121 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Atrial septal defect, Finger syndactyly, Cryptorchidism, Wide nasal... |
ORPHA:2886 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vesi... |
OMIM:301068 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Shor... |
ORPHA:1600 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Limb undergrowth |
OMIM:608149 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... |
OMIM:110100 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil... |
OMIM:119800 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Short stature, Cervical kyphosis, Short neck, Tapered finger, Overweight, Small hand, Short clavi... |
ORPHA:401923 |
Chung-Jansen Syndrome |
|
Micrognathia, Tapered finger, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hyper... |
OMIM:617991 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe... |
ORPHA:3082 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Myopathy, Centronuclear, X-Linked |
|
Flexion contracture, Arachnodactyly, Slender toe |
OMIM:310400 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto... |
ORPHA:3261 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis |
ORPHA:735 |
Dermatoleukodystrophy |
|
Large hands, Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus ... |
ORPHA:2461 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... |
OMIM:618805 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Cutis marmorata, Ventricular septal defect, Portal hypertension, Hypoplastic toenails... |
OMIM:616589 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lympho... |
OMIM:619991 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... |
OMIM:233270 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... |
ORPHA:3138 |
Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Short stature, Micrognathia, Talipes equinovarus, Camptod... |
OMIM:612313 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Allan-Herndon-Dudley Syndrome |
|
Pes planus, Short stature, Small for gestational age, Kyphoscoliosis, Failure to thrive in infanc... |
ORPHA:59 |
Monosomy 13Q34 |
|
Hepatic steatosis, Epicanthus, Metrorrhagia, Hypercalcemia, Fetal pyelectasis, Postaxial hand pol... |
ORPHA:96168 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Tapered finger |
OMIM:618367 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Tapered finger |
OMIM:619000 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... |
OMIM:614921 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ab... |
ORPHA:536545 |
Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Hepatomegaly, Cryptorchidism, Renal hypoplasia, Nephrotic syndrom... |
ORPHA:191 |
Panner Disease |
|
Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar... |
ORPHA:97336 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia... |
OMIM:304790 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardi... |
ORPHA:858 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic... |
ORPHA:163654 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino... |
ORPHA:84 |
Cofs Syndrome |
|
Short stature, Camptodactyly of finger, Wide nasal bridge, Hypogonadism, Microphthalmia, Cutaneou... |
ORPHA:1466 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Alg9-Cdg |
|
Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular ... |
ORPHA:79328 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Multiple pul... |
OMIM:619418 |
Costello Syndrome |
|
Redundant skin, Polyhydramnios, Hypoplastic toenails, Acanthosis nigricans, Deep-set nails, Short... |
ORPHA:3071 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Short neck, Tapered finger, Small hand, 2-3 toe syndactyly, Truncal obesity, Scoli... |
ORPHA:284180 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine... |
OMIM:602579 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Neutropenia, Shor... |
OMIM:604173 |
Auriculoosteodysplasia |
|
Short stature, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metac... |
ORPHA:114 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Cryptorchidism, Dry sk... |
ORPHA:2617 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Abnormal circulating lip... |
ORPHA:829 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Hyperc... |
ORPHA:363618 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Short palm,... |
OMIM:305400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic ste... |
ORPHA:79259 |
Gand Syndrome |
|
Long toe, Long fingers |
OMIM:615074 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contracture, Ankle clonus, Cl... |
OMIM:614222 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Short stature, Bicuspid aortic valve, Highly arched eyebrow, Postnatal growth retarda... |
OMIM:243310 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar pits, Irregular os... |
OMIM:109400 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density |
ORPHA:2720 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly |
ORPHA:508542 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Tapered finger, ... |
OMIM:616801 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperextensibility at wrists, H... |
ORPHA:544503 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Infecti... |
ORPHA:292 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Al... |
OMIM:264090 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Arachnodactyly, Long foot, Micrognathia, Growth delay, Failure to thrive |
ORPHA:2707 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Galloway-Mowat Syndrome 10 |
|
Arachnodactyly |
OMIM:619609 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Pterygium of nails, Nasolacri... |
OMIM:224230 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Stiff neck, Kyphoscoliosis |
OMIM:618230 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Failure to thrive in... |
OMIM:613385 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Premature birth, Portal h... |
ORPHA:567983 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Postnatal growth re... |
OMIM:301040 |
Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Short stature, Tapered finger |
OMIM:617931 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Flexion cont... |
OMIM:309520 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy... |
ORPHA:245 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Satoyoshi Syndrome |
|
Alopecia, Short metacarpal, Short stature, Brachydactyly, Short metatarsal, Osteolytic defects of... |
OMIM:600705 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper... |
OMIM:615381 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Micrognathia, Preaxial hand... |
ORPHA:280 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Decr... |
ORPHA:48818 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperke... |
ORPHA:79503 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:3342 |
Johanson-Blizzard Syndrome |
|
Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase le... |
OMIM:243800 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, I... |
OMIM:619879 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi... |
OMIM:616395 |
Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger |
OMIM:300706 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasi... |
ORPHA:1454 |
Recon Progeroid Syndrome |
|
Joint laxity, Short stature, Arachnodactyly, Proximal placement of thumb, Growth delay, Long thumb |
OMIM:620370 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Periportal fibrosis, Postaxial polydactyly |
OMIM:213010 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
Mehmo Syndrome |
|
Growth delay, Obesity, Talipes equinovarus, Tapered finger |
ORPHA:85282 |
Barber-Say Syndrome |
|
Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Redundant skin, Bra... |
OMIM:209885 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly |
OMIM:620237 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn... |
ORPHA:1865 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Lar... |
OMIM:617011 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short metatarsal, Irregular vertebral endplates, Bilateral coxa valga, Short phalan... |
ORPHA:439822 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus, Postnatal gr... |
ORPHA:300570 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Short stature, Small ... |
ORPHA:464306 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Episodic Ataxia Type 1 |
|
Hand clenching, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Ankle clonus, Delayed menarche, Arachnodactyly, Adducted thumb |
ORPHA:412057 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Pes planus, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Pes planus, Sacral dimple, Short stature, Tapered finger, Micrognathia, Contracture... |
OMIM:605130 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au... |
ORPHA:227990 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short met... |
OMIM:248800 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal ... |
ORPHA:582 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Failure to thrive |
ORPHA:17 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Short stature, Micrognathia, Cachexia, Kyphosis, Osteoarthri... |
ORPHA:828 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Decreased fetal movement, Cryptorchidism, Patent ductus arterios... |
OMIM:608104 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Polyhydramnios, Micromelia, Asplenia, Abnormal lung lobation, Hydrops fetali... |
ORPHA:99776 |
Orofaciodigital Syndrome I |
|
Dry hair, Hepatic fibrosis, Sparse hair, Syndactyly, Alopecia, Short stature, Myelomeningocele, W... |
OMIM:311200 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Ectode... |
OMIM:224750 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
De Barsy Syndrome |
|
Prominent veins on trunk, Coxa vara, Premature rupture of membranes, Sparse hair, Emphysema, Shor... |
ORPHA:2962 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... |
OMIM:238970 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Sandal gap, Short stature, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly |
OMIM:618089 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis... |
ORPHA:2269 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Bainbridge-Ropers Syndrome |
|
Pes planus, Ulnar deviation of the hand, Arachnodactyly, Micrognathia, Growth delay, Contracture ... |
OMIM:615485 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... |
ORPHA:227982 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis |
ORPHA:324410 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Growth delay, Joint contracture of the 5th finger, Clinodactyly of ... |
OMIM:614407 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Entropion... |
ORPHA:36426 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... |
OMIM:608540 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hypotrophy o... |
OMIM:610443 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ectropion, Short stature, Hypertriglycerid... |
ORPHA:98907 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ... |
ORPHA:2050 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Hypersensitivity pneumonitis, Dacry... |
ORPHA:1163 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of... |
OMIM:617219 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79239 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure |
ORPHA:60 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Short stature, Coxa valga, Flared metaphysis, Growth delay, Truncal obe... |
ORPHA:370930 |
Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Short stature, Micrognathia, Long fingers, Ectrodactyly, Broad dis... |
OMIM:619648 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al... |
ORPHA:785 |
Opitz-Kaveggia Syndrome |
|
Prominent fingertip pads, Epicanthus, Syndactyly, Hypospadias, Short stature, Facial wrinkling, B... |
OMIM:305450 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... |
OMIM:609053 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Progeroid facial appearance,... |
ORPHA:79086 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbil... |
OMIM:619534 |
Leukodystrophy, Hypomyelinating, 3 |
|
Joint contracture, Failure to thrive, Kyphoscoliosis |
OMIM:260600 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s... |
ORPHA:439167 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis |
ORPHA:199354 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent fingertip pads, Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Ove... |
ORPHA:391372 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Kyphoscoliosis |
OMIM:620075 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Hypergranul... |
OMIM:615508 |
Werner Syndrome |
|
Diabetes mellitus, Prematurely aged appearance, Elevated circulating aspartate aminotransferase c... |
OMIM:277700 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... |
ORPHA:508488 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Talipes equinovarus, Camptodactyly, Clinodactyly,... |
ORPHA:397709 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlo... |
OMIM:181405 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Prematurely aged appearance, Redun... |
ORPHA:2963 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Growth delay, Abnormal radial ray morphology, Intrauterin... |
OMIM:617784 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Decreased palmar creases, Cervical kyphosis, Tapered finger, Kyphoscoliosis, C... |
ORPHA:2953 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Hemolytic anemia, Aplastic anemia, Pa... |
ORPHA:398124 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly... |
ORPHA:589905 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neonatal death, Pt... |
OMIM:256520 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Short stature, Ventricular septal defect, Skin rash, Splenome... |
ORPHA:290 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Prematurely aged appearance, Abnormal distal phalan... |
ORPHA:1387 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Elevated circulating creatine kinase concentration, Polyhydramnios, Leukopen... |
OMIM:301056 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neon... |
OMIM:601186 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Peho-Like Syndrome |
|
Tapered finger |
OMIM:617507 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Preaxial polydactyly, Obesity, Colobom... |
ORPHA:141333 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Restrictive Dermopathy |
|
Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,... |
ORPHA:1662 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Osteoarthritis, Shallow orbits, Generalized abnormality of s... |
ORPHA:740 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality... |
ORPHA:3015 |
Joubert Syndrome 9 |
|
Encephalocele, Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Adams-Oliver Syndrome 4 |
|
Cutis marmorata, Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Short... |
OMIM:615297 |
Q Fever |
|
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... |
ORPHA:781 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Hepatomegal... |
OMIM:269860 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Wide nasal brid... |
OMIM:615524 |
Cerebellofaciodental Syndrome |
|
Pes planus, Short stature, Single transverse palmar crease, Tapered finger, Short neck, Shortenin... |
OMIM:616202 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Clinodactyly of the 5th finger, Lumbar kyphoscoliosis, Growth delay, Pes cavus |
OMIM:619422 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Pes planus, Genu recurvatum, Tapered finger, Short 3rd toe, Joint hyperflexibility, Short 4th toe |
OMIM:618707 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... |
ORPHA:244 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Arachnodactyly |
OMIM:612242 |
Aase-Smith Syndrome I |
|
Talipes equinovarus, Flexion contracture, Slender finger |
OMIM:147800 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:207900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Decreased fetal movement, Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Conjunctivitis, Neutropenia, Tige... |
ORPHA:33364 |
Congenital Disorder Of Glycosylation, Type Id |
|
Failure to thrive, Long fingers, Flexion contracture, Talipes equinovarus, Arthrogryposis multipl... |
OMIM:601110 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased fetal movement... |
OMIM:616263 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Polyhydramnios, Abnormally large globe, Abnormality of the uterus, Hypocalce... |
ORPHA:1655 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho... |
ORPHA:14 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat... |
ORPHA:2552 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Long toe, ... |
OMIM:615438 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, Scoliosis |
OMIM:218000 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... |
OMIM:614841 |
Trisomy 13 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, Abnormal eyelash morphology, Crypt... |
ORPHA:3378 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Acne, Hype... |
OMIM:615363 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac... |
OMIM:602152 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co... |
OMIM:268300 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Nail dystrop... |
ORPHA:79399 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Small for gestational age, Failure to thrive in infancy... |
ORPHA:261311 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Joint hypermobility, Kyphoscoliosis |
OMIM:616470 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Optic nerve hypopl... |
OMIM:300953 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst... |
ORPHA:2031 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela... |
OMIM:617247 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... |
ORPHA:572333 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Prematurely aged appearance, Dysmenorrhea, Sparse ey... |
ORPHA:2067 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Cardiomegaly, Neonatal death, Hepatomegaly, Premature birth, Nonimmune hydrops fe... |
OMIM:608013 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Micrognathia, Short neck, Tapered finger, Intrauterine growth retardation |
ORPHA:1438 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyl... |
ORPHA:221120 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosi... |
OMIM:619377 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B... |
OMIM:300990 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Talipes, Joint hyperflex... |
ORPHA:276413 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Long foot |
ORPHA:85325 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Fair hair, Epicanthus, Premature birth, Cardiomegaly, Conjugated... |
OMIM:269920 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... |
OMIM:201475 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go... |
ORPHA:436182 |
Leopard Syndrome 3 |
|
Curly hair, Short stature, Epidermal hyperkeratosis, Tetralogy of Fallot, Low posterior hairline,... |
OMIM:613707 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Absent pubertal growth spurt, Hypoplas... |
OMIM:250250 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio... |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Avian Influenza |
|
Elevated hepatic transaminase, Lymphopenia, Pneumonia, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio... |
ORPHA:583 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi... |
OMIM:166220 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, A... |
ORPHA:186 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Micrognat... |
ORPHA:96170 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis |
OMIM:616684 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam... |
ORPHA:400 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Arachnodactyly, Talipes equinovarus, Micrognathia |
OMIM:619036 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Epicanthus, Pancreatic fibrosis, Micromelia, Thickened skin, Postaxial hand polydac... |
OMIM:200995 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... |
ORPHA:3406 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestationa... |
OMIM:614813 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, S... |
OMIM:617052 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ... |
ORPHA:314478 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,... |
ORPHA:2848 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Arachnodactyly, Micrognathia, Hip dislocation, Camptodactyly, Intrauterine growth ... |
OMIM:617729 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphosis, Osteoporo... |
ORPHA:3063 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Single transverse palmar crease, Craniosynostosis, Long fingers, Large... |
OMIM:613174 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip... |
ORPHA:1005 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Short stature, Thick hair, Redundant skin, Postnatal growth retardation, Abn... |
ORPHA:357074 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ... |
OMIM:615980 |
Patent Ductus Venosus |
|
Hyperammonemia, Congenital portosystemic venous shunt, Decreased liver function, Persistent paten... |
OMIM:601466 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera... |
OMIM:619512 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Short stature, Nephrotic range proteinuria, Pri... |
ORPHA:300536 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... |
ORPHA:139402 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... |
OMIM:270400 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestati... |
ORPHA:457359 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scol... |
ORPHA:64755 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o... |
ORPHA:476126 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Short stature, Small hand, Skin ulcer, F... |
ORPHA:2500 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Long eyelashes, Microphtha... |
ORPHA:48431 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Pes planus, Tapered finger, Small hand, Hip dysplasia, Clinodactyly of the 5th finger |
OMIM:618672 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Micropht... |
OMIM:613730 |
6Q16 Microdeletion Syndrome |
|
Long foot, Micrognathia, Obesity, Tapered finger |
ORPHA:171829 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Poor wound heali... |
ORPHA:2072 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ... |
OMIM:607361 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Limb joint contracture, Short stature, Overlapping toe, Tapered finger, Scoliosis |
OMIM:300004 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Splenom... |
ORPHA:549 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains... |
OMIM:615846 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Optic atrophy, Astrocytosis |
ORPHA:225154 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur... |
OMIM:234050 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Decreased fetal movement, Rocker bottom foot, Talipes equinovarus, Microphthalmia, Cutaneous phot... |
OMIM:616570 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short stature, Small for gestational age, Kyphoscoliosis, Micrognathi... |
OMIM:268400 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Obesity, Tapered finger |
ORPHA:352530 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Diaphyseal s... |
OMIM:259710 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast... |
OMIM:608836 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Short stature, Obesity, Kyphoscoliosis |
ORPHA:3077 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Short neck, Micrognathia, Long fingers, Postnatal growth retardation, De... |
OMIM:615668 |
White-Sutton Syndrome |
|
Joint laxity, Short stature, Micrognathia, Short neck, Obesity, Hypoplastic cervical vertebrae, B... |
OMIM:616364 |
Leprechaunism |
|
Nephrocalcinosis, Increased circulating renin level, Acanthosis nigricans, Hepatomegaly, Enlarged... |
ORPHA:508 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Thyroid carcinoma, Foo... |
ORPHA:210548 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Talipes equinovarus, Pes cavus |
ORPHA:169186 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... |
OMIM:253220 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Tapered finger, Short toe, Joint hyperflexibility, Truncal obesity, Abnormal hip b... |
ORPHA:127 |
Familial Visceral Myopathy |
|
Joint stiffness, Arachnodactyly, Camptodactyly of finger, Micrognathia |
ORPHA:2604 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
Joubert Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, O... |
OMIM:213300 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Overlapping toe, Short stature, Postaxial polydactyly, Micrognathia, Tapered finge... |
OMIM:613792 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Flexion contracture, Scoliosis |
OMIM:208050 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, A... |
ORPHA:2769 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Renal insufficiency, Cutis marmorata, Proteinuria, Splenomegaly, S... |
ORPHA:91138 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Dilated cardiomyopathy, Palmoplantar hy... |
OMIM:605676 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Pontocerebellar Hypoplasia, Type 10 |
|
Growth delay, Short neck, Kyphoscoliosis, Tapered finger |
OMIM:615803 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Coloboma, Uraciluria, Microphthalmia, Failure to thrive, Reduced dihydropyrimidine ... |
OMIM:274270 |
Roifman Syndrome |
|
Clinodactyly of the 5th finger, Hepatomegaly, Short metacarpal, Premature birth, Short stature, S... |
OMIM:616651 |
Distal Deletion 12Q |
|
Broad hallux, Overlapping toe, Single transverse palmar crease, Micrognathia, Short neck, Wide an... |
ORPHA:96149 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Bresek Syndrome |
|
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:85284 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl... |
ORPHA:96148 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe... |
OMIM:224410 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Entropion... |
ORPHA:537 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Ptosis |
ORPHA:1875 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Short... |
OMIM:242150 |
Coffin-Lowry Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Craniofacial hyp... |
ORPHA:192 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Meester-Loeys Syndrome |
|
Pes planus, Arachnodactyly, Short stature, Cervical spine instability, Broad distal phalanx of fi... |
OMIM:300989 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Scoliosis, Tapered finger |
OMIM:618825 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Breech presentation, Hepatitis, Cholesta... |
ORPHA:440713 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Abnormal internal genitalia, Postaxial hand polydact... |
OMIM:612284 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
Marfan Syndrome |
|
Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ... |
ORPHA:558 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Abnormal foot morphology, Flexion contracture, Decreased body weight, Slender finger, Adducted thumb |
OMIM:300243 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... |
OMIM:610954 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... |
OMIM:615704 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Short neck, Coxa valga, Large for gestational age, Limitation of jo... |
ORPHA:254519 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Small for gestational age, Micrognathia, Long fingers, Flexion contract... |
ORPHA:284979 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Overweight, Cryptorchidism, Follicular hyperkeratosis, Delayed ... |
ORPHA:486815 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Lymphedema, Primary, With Myelodysplasia |
|
Long fingers, Tapered finger |
OMIM:614038 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Down Syndrome |
|
Thickened nuchal skin fold, Epicanthus, Prematurely aged appearance, Sandal gap, Obesity, Decreas... |
ORPHA:870 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Micrognathia, Short neck, Wide anterior fontanel, Long fingers, Po... |
ORPHA:3309 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased circulatin... |
OMIM:194380 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Anophthalmia, Cryptorchidism, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Mic... |
OMIM:164180 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Clinodactyly,... |
OMIM:249000 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Abnormality o... |
ORPHA:699 |
Marfan Syndrome |
|
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re... |
OMIM:154700 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow,... |
ORPHA:1807 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, External genital hypoplasia, Hypergranulosis, Thin nail, Abnormal hair morphology, Shor... |
OMIM:242100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad... |
ORPHA:363958 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... |
ORPHA:508533 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Hip dysplasia, Kyphoscoliosis, Equinovarus deformity |
ORPHA:466722 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Short stature, Small for gestational age, Postnatal growth retardation, Lon... |
OMIM:613355 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Postnatal growth retardation, Short long... |
OMIM:619184 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Short stature, Splenomegaly, Paronychia, Low ... |
OMIM:201100 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Hemivertebrae, Butte... |
OMIM:206900 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Short stature, Chronic otitis media, Lack ... |
ORPHA:313 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hy... |
ORPHA:281090 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Microg... |
ORPHA:2020 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Mic... |
ORPHA:94065 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Short stature, Proximal placement of thumb, Blepharophimosis, Low anterior hairline, ... |
OMIM:617883 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Short neck, ... |
ORPHA:1798 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderm... |
ORPHA:454 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Kyph... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Kyph... |
ORPHA:590 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Alopecia, Small scrotum, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebr... |
ORPHA:228390 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Congenital nonbullous ichthyosiform erythroderma, Hepatic steatosis, Ectr... |
OMIM:275630 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Arima Syndrome |
|
Hepatomegaly, Postaxial foot polydactyly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stag... |
OMIM:243910 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism,... |
ORPHA:494344 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Epicanthus, Telecanthus, Telangiectasia of the skin, Pancytope... |
ORPHA:99812 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Short stature, Tapered finger, Micrognathia, Preaxial hand... |
OMIM:620072 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
Boomerang Dysplasia |
|
Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Epicanthus, Short stature, Ventricular septal defect, Cryptorchidism, Clinodactyly, B... |
ORPHA:369891 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine gr... |
OMIM:613861 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Ane Syndrome |
|
Multiple joint contractures, Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Delayed ... |
ORPHA:157954 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla... |
OMIM:311900 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Increased ci... |
ORPHA:766 |
Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Long hallux, Tapered finger |
OMIM:619854 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratos... |
OMIM:613576 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Short stature, Abnormal thumb morphology, Limitation of joint mobility, Growth delay |
ORPHA:2719 |
Fanconi Anemia, Complementation Group P |
|
Short stature, Micrognathia, Absent thumb, Short thumb, Hypoplasia of the radius, Growth delay |
OMIM:613951 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... |
ORPHA:289157 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Abnormal lung morphology, Paraproteinemia, Acral ulcerat... |
ORPHA:91139 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... |
OMIM:252500 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Femoral bowing, Short long bone, Talipe... |
OMIM:617022 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Small for gestational age, Kyphoscoliosis, B... |
ORPHA:97360 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ... |
ORPHA:436252 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints |
OMIM:182940 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Short stature, Abnormal pulmonary valve morphology,... |
ORPHA:500 |
Jacobsen Syndrome |
|
Clitoral hypoplasia, Eyelid coloboma, Chorioretinal coloboma, Clinodactyly of the 5th finger, Atr... |
OMIM:147791 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens... |
OMIM:252930 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slender finger |
OMIM:610536 |
Noonan Syndrome 2 |
|
Polyhydramnios, Atrial septal defect, Atrioventricular canal defect, Short stature, Sparse eyebro... |
OMIM:605275 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Orbital cyst |
OMIM:251505 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi... |
OMIM:170100 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Brachydactyly, Widow's peak, Postaxial hand polydactyly, Anterior basal encephalocele... |
OMIM:136760 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Prominent fingertip pads, Tapered finger |
OMIM:615722 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical... |
OMIM:231680 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Cryptorchidism, Cone-shaped epiphyse... |
OMIM:618958 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash... |
ORPHA:572 |
Noonan Syndrome 10 |
|
Curly hair, Epicanthus, Atrial septal defect, Short stature, Mitral stenosis, Ventricular septal ... |
OMIM:616564 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Postnatal growth retardation, Adducted thumb, Cutis laxa, Talipes equi... |
OMIM:616603 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Pes planus, Tapered finger, Flexion contracture, Hip dysplasia, Talipes equinovarus... |
OMIM:619293 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, 4-5 finger syndactyly, Camptodactyl... |
ORPHA:158687 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Obesity, Scoliosis, Clinodactyly of the 5th finger |
OMIM:618430 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Cutis marmorata, Skin rash, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
ORPHA:228305 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Digital constriction ring, P... |
ORPHA:79395 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hepatomegaly, Thickened nuchal skin fold, Redundant neck skin, Ventricular septa... |
OMIM:235255 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Pes planus, Broad hallux, Arachnodactyly, Short finger, Cubitus valgus, Homocystinuria |
OMIM:601552 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Skin vesicle, S... |
ORPHA:1775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta... |
OMIM:300998 |
Sjögren-Larsson Syndrome |
|
Short stature, Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormalit... |
ORPHA:816 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Decreased fetal movement, Premature ovarian insufficiency, Short stature, Elevated circulating cr... |
OMIM:619518 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Clinodactyly of the 5th finger, Sparse h... |
OMIM:115150 |
Papillon-Lefèvre Syndrome |
|
Palmoplantar keratoderma, Arachnodactyly, Osteolysis, Palmoplantar hyperkeratosis |
ORPHA:678 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Growth delay, Hypocalcemia, Ascites, ... |
ORPHA:100025 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Shukla-Vernon Syndrome |
|
Long fingers, Tapered finger |
OMIM:301029 |
Malan Syndrome |
|
Long fingers, Scoliosis, Coxa valga |
OMIM:614753 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Right ventricular cardiomyopathy, Abnormal morphology of ri... |
OMIM:601214 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Thickened skin, Leukocytosis, Shor... |
ORPHA:39041 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Polyhydramnios, Abnormally large globe, Postnatal growth retardation... |
ORPHA:435628 |
Noonan Syndrome 13 |
|
Joint laxity, Pes planus, Overlapping toe, Micrognathia, Metatarsus adductus, Tapered finger, Low... |
OMIM:619087 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Hypot... |
OMIM:617577 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Pterygium, Alopecia, Short stature, ... |
ORPHA:910 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Prematurely ... |
OMIM:610965 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Bowing of the legs, Hirsutism, Hepatosplenomegaly, Clitoral hypertr... |
ORPHA:313855 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Short stature, Tapered finger, Narrow palm, Hip dislocation, Hip dys... |
OMIM:619435 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Metatarsus adductus, ... |
OMIM:214110 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Wrinkly Skin Syndrome |
|
Epicanthus, Short stature, Short nail, Redundant skin, Progeroid facial appearance, Cryptorchidis... |
OMIM:278250 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Cardiomyopathy, Elevated circu... |
ORPHA:52430 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contractu... |
OMIM:601701 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Flexion contracture, Pes cavus, Scoliosis, Tapered finger |
OMIM:616505 |
Short Syndrome |
|
Alopecia, Diabetes mellitus, Telecanthus, Severe short stature, Wide nasal bridge, Weight loss, H... |
ORPHA:3163 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Joint contracture, Kyphoscoliosis |
OMIM:617664 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Scoliosis, Overlapping fingers |
OMIM:618316 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Prominent superficial vein... |
OMIM:151660 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Joint laxity, Micrognathia, Long fingers, Broad distal phalanx of finger, Intrauterine ... |
ORPHA:363686 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wou... |
OMIM:618000 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Degcags Syndrome |
|
Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying o... |
OMIM:619488 |
Netherton Syndrome |
|
Decreased circulating IgG level, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent respir... |
OMIM:256500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Hypertrophic cardiomyop... |
ORPHA:79279 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Hematuria, Hyperkeratosis, Pulmonary fibro... |
ORPHA:1839 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hemivertebrae, Failure to thrive, Butterfly vertebral arch, Short distal ... |
OMIM:118450 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidis... |
OMIM:618652 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... |
ORPHA:233 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... |
OMIM:307200 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Acanthosis nigricans, Sparse hair, Decreased adipose tissue arou... |
OMIM:606721 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Ramon Syndrome |
|
Diabetes mellitus, Telangiectasia of the skin, Hyperkeratosis, Failure to thrive, Generalized hir... |
ORPHA:3019 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Hip dysplasia, Bilateral talipe... |
OMIM:617807 |
Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Short stature, Acne, Biliary tract abnormality, Obesity, Membranous subvalvular aorti... |
ORPHA:3191 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... |
OMIM:608154 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Ectopic kidney, Ankyloblepharon, Pterygium, ... |
OMIM:263650 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Sparse hair, Micrope... |
OMIM:200110 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Optic disc hypoplasia, Decreased response to growth hormone stimul... |
ORPHA:324737 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Decreas... |
ORPHA:1855 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Epicanthus, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Cut... |
OMIM:605309 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Fetal akinesia sequence, Ulnar deviation of the hand or of fingers of the hand, P... |
OMIM:208150 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Pes planus, Single transverse palmar crease, Tapered finger, Prominent crus of helix, Broad palm,... |
OMIM:617804 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Hypoplasia of pe... |
ORPHA:66634 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, Abnormal... |
ORPHA:31202 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... |
ORPHA:284426 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ... |
ORPHA:521426 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... |
ORPHA:48435 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Epicanthus, Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, ... |
OMIM:227260 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Short stature, Leukocytosis, Renal hypopl... |
OMIM:619321 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Hyperkeratosis, Hypophosphatemia, Iris colob... |
ORPHA:2611 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Premature rupture of m... |
OMIM:619573 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Osteoarthritis, Hydrops fetalis, Hepatomeg... |
ORPHA:355 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip dislocation, Foot joint cont... |
ORPHA:456312 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, Kyph... |
OMIM:617061 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Cockayne Syndrome A |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Hepatomegaly, Pr... |
OMIM:216400 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short stature, Sandal gap, Highly arched eyebrow, Nail dystrophy, Atrial... |
OMIM:300887 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Chorioretinal coloboma, Sparse hair, Clin... |
OMIM:280000 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Micrognathia, Long fingers, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, Sl... |
OMIM:618343 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Pallor, Neutrophilia, Angioedema, Leukocytosis, Clubbing, Dilated cardiomyo... |
ORPHA:3260 |
Mednik Syndrome |
|
Erythema, Cholestasis, Upslanted palpebral fissure, Growth delay, Hepatic fibrosis, Neonatal deat... |
OMIM:609313 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Rickets of th... |
ORPHA:289176 |
Distal Deletion 19P |
|
Long toe, Joint hyperflexibility, Arachnodactyly |
ORPHA:96129 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Failure to thrive, Tarsal synostosis, S... |
ORPHA:90652 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, Short palm, Accessory spleen, Sho... |
OMIM:618419 |
Seckel Syndrome 7 |
|
Severe short stature, Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hyp... |
OMIM:614851 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Short stature, Tapered finger, Growth delay, Scoliosis, Camptodactyly, Clinodactyly |
OMIM:619576 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic... |
ORPHA:83617 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Ptosis, Hypoplastic fifth toenail, Short stature, Decreased response to growth... |
OMIM:615866 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Arachnodactyly |
OMIM:219100 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a... |
ORPHA:63259 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Trisomy 17P |
|
Short stature, Talipes, Micrognathia, Short neck, Tapered finger, Flexion contracture, Growth del... |
ORPHA:261290 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Short stature, Short finger, Tapered finger |
ORPHA:1867 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Short stature, Coxa valga, Short neck, Hypoplasia of the odontoid... |
OMIM:607014 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, ... |
ORPHA:3162 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infectious enceph... |
ORPHA:391487 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair, Epicanthus, Short stature, Wide nasal bridge, Upslanted pal... |
ORPHA:50812 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Short neck, Tapered finger, Obesity, Thoracic kyphosis, Scoliosis |
OMIM:620250 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Ap... |
OMIM:308240 |
Cockayne Syndrome B |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Sparse hair, Micr... |
OMIM:133540 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Cryptorchidism, Bilatera... |
ORPHA:404440 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Pes planus, Kyphoscoliosis, Hand muscle weakness, Arefle... |
ORPHA:99956 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect... |
OMIM:615207 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... |
OMIM:269200 |
Moebius Syndrome |
|
Syndactyly, Epicanthus, Brachydactyly, Hypogonadotropic hypogonadism, Clinodactyly, Split hand, C... |
OMIM:157900 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... |
ORPHA:2167 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Epicanthus, Short stature, Atrial septal defect, Polyhydramnios, L... |
OMIM:607721 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Cervica... |
OMIM:609192 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac... |
OMIM:614922 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Prog... |
ORPHA:90321 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Metatarsus adductus, Splenomegaly, ... |
ORPHA:584 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Polyhydramnios, Sparse eyebrow, Wide nasal bridge, Hydrocele testis, ... |
OMIM:618810 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Pleural thickening, Fetal pericardial e... |
OMIM:620014 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:99901 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick hair, Progeroid facial appearance, Postnatal growth retardation, Excessive wrinkled skin, I... |
ORPHA:357058 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short stature, Ventricular septal defect, Hyperkeratosis, Pulmonic stenosis, Atrial s... |
OMIM:615279 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cryptorchidism, Fine hair, Cutis laxa, Narrow palpebral fissure, Exc... |
OMIM:614438 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Short stature, Postaxial polydactyly, Tapered finger, Lower limb asy... |
OMIM:300968 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Martsolf Syndrome 1 |
|
Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Micropenis, A... |
OMIM:212720 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Asplenia, Urethral atresia, Encephalocele, Accessory spleen, ... |
ORPHA:564 |
Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Failur... |
ORPHA:86309 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Short stature, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral mic... |
OMIM:619318 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Progeroid facial appearance, Cryptorchidism, Uveitis, Conjunctivitis,... |
ORPHA:90322 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma... |
OMIM:610688 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... |
ORPHA:2199 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Very long chain fatty acid accumulation,... |
OMIM:261515 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Dry skin, Ichthyosis |
ORPHA:461 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Tapered finger, Micrognathia, Short thumb, Short neck, Hip dysplasia, B... |
OMIM:620224 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Splenomegaly, Increased urinary ... |
ORPHA:812 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Epicanthus, Small for gestational age, Short stature, Hypercalcemia, Cryptorchidism... |
OMIM:618440 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy |
ORPHA:89843 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Failure to thrive, Epicanthus, Hypospadias, Very long c... |
ORPHA:912 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Epicanthus, Overlapping fingers, Overlapping toe, Ventricular septal defect... |
OMIM:618494 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low anterior hairline, Prominent fingertip pads, Prematurely aged appearance, Short stature, Tape... |
OMIM:619950 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syn... |
OMIM:603467 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Decreased retinol-binding protein level, Follicular hyperkeratosis, Com... |
OMIM:615147 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency... |
ORPHA:589 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Abnormality of the subungual region, Splenic rupture, Clubbin... |
ORPHA:335 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,... |
OMIM:610168 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Overlapping toe, Failure to thrive in infancy, Kyphoscoliosis, Micrognat... |
ORPHA:798 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal eyelid morphology, Abnormal lung lobation, Hypoplasia of the thymus, Abn... |
ORPHA:567 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Long fingers, Wide ant... |
ORPHA:401973 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Abnormal toenail morphology, Spina bifida occulta, Infectious ... |
ORPHA:464 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Autoamputation of digits, Thickened skin, Erythroderma, Palmoplantar hyp... |
ORPHA:100976 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Premature birth, Hypercalcemia, Polyhydramnios, Thrombocytopen... |
ORPHA:2123 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Epicanthus, Broad hallux, Methylm... |
OMIM:614105 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Hyperalaninemia, E... |
OMIM:615273 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Palmoplantar hyperkeratosis, Macrovesicular hepatic steatosis, Shallow orbits, Sparse hair, Paten... |
OMIM:619127 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Membr... |
OMIM:619644 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Microretrognathia, Joint... |
OMIM:613406 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor... |
OMIM:231050 |
Mogs-Cdg |
|
External genital hypoplasia, Polyhydramnios, Cardiomegaly, Atrial septal defect, Decreased circul... |
ORPHA:79330 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck... |
OMIM:617159 |
Relapsing Polychondritis |
|
Uveitis, Conjunctivitis, Chondritis, Alopecia, Atelectasis, Hepatitis, Scleritis, Episcleritis, R... |
ORPHA:728 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... |
OMIM:618078 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Short stature, Abnormal limb bone morphology, Fine hair, Hyperke... |
ORPHA:1573 |
Mosaic Trisomy 16 |
|
Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora... |
ORPHA:1708 |
Ring Chromosome 7 Syndrome |
|
Short stature, Single transverse palmar crease, Prominent crus of helix, Small hand, Genu valgum,... |
ORPHA:1449 |
Developmental And Epileptic Encephalopathy 2 |
|
Short foot, Small hand, Scoliosis, Tapered finger |
OMIM:300672 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Epicanthus, Laterally extended eyebrow, Small for gestational age, Rock... |
OMIM:618804 |
Bohring-Opitz Syndrome |
|
Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Short stature, Tapered ... |
OMIM:605039 |
C Syndrome |
|
Micromelia, Dislocated radial head, Hepatomegaly, Short metacarpal, Clitoral hypertrophy, Short s... |
OMIM:211750 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Short stature, Proximal placement of thumb, Micrognathia, Taper... |
ORPHA:251071 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Retinal detachment, Congestive heart failure, Arterial rupture, Aortic dissection, Arterial disse... |
ORPHA:1900 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... |
OMIM:602400 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... |
OMIM:214800 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormal retinal morphology |
ORPHA:33276 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab... |
ORPHA:3412 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Short stature, Cryptorchidism, Low anterior hairline, Severe postnatal growth reta... |
OMIM:615663 |
Loeys-Dietz Syndrome |
|
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Joint hyperf... |
ORPHA:60030 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Epicanthus, Short stature, Postnatal growth retardation, Cryp... |
ORPHA:2834 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Nep... |
ORPHA:445038 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Sparse hair, Atrial septal defect, Hypothyroidism, Iris coloboma,... |
OMIM:620186 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Synophrys, Panhypopituitarism, Chor... |
ORPHA:2162 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypoplasia of the iris, Otitis media, Hypocholesterolemia, Clinodactyly of the 5... |
OMIM:223370 |
Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Stroke, Nonart... |
OMIM:125310 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for gestational ag... |
OMIM:201750 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Coronal hypospadias, Shor... |
ORPHA:921 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pes planus, Arachnodactyly, Scoliosis |
ORPHA:91387 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of ... |
OMIM:308300 |
Kawasaki Disease |
|
Abnormality of nail color, Pericarditis, Proteinuria, Abnormal heart valve morphology, Skin rash,... |
ORPHA:2331 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Wide anterior fontanel,... |
OMIM:275210 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial n... |
ORPHA:797 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t... |
ORPHA:2470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Autosomal Dominant Cutis Laxa |
|
Dermal translucency, Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral... |
ORPHA:90348 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Kyphoscoliosis |
ORPHA:53721 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Epicanthus, Hyperoxaluria, Wide nasal bridge, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
Radial-Renal Syndrome |
|
Absent radius, Short stature, Absent thumb |
OMIM:179280 |
Galloway-Mowat Syndrome 1 |
|
Short stature, Small for gestational age, Micrognathia, Talipes equinovarus, Camptodactyly, Hand ... |
OMIM:251300 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c... |
ORPHA:369840 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri... |
ORPHA:2062 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Severe short stature, Elevated ci... |
OMIM:617253 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-r... |
OMIM:612852 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Telangiectasia |
OMIM:219250 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Joint laxity, Short stature, Thoracolumbar scoliosis, Tap... |
ORPHA:480880 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Mic... |
OMIM:227646 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Talipes equinovarus, Intrauterine growth retardation |
OMIM:616171 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, Long fingers... |
ORPHA:79324 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridge, ... |
ORPHA:2510 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral crypt... |
OMIM:613451 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... |
OMIM:616433 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Short stature, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalm... |
OMIM:614583 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Hypoalbuminemia, Hypocalcemia, Emphysema, Hepatic steatosis, Short stature, Portal... |
OMIM:613658 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Short stature, Small for gestational age, Progeroid facial appearance, S... |
ORPHA:50811 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Tapered finger, Hypoplastic toe... |
ORPHA:2930 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Erythema, Dilated cardiomyopathy, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:615821 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Abnormality of the endocr... |
ORPHA:633 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Osteopenia, Down-sloping shoulders, Recurrent fractures, Tapered finger, Mi... |
OMIM:611174 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Thrombocytopenia, Premature gray... |
ORPHA:3322 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Renal insufficiency, Thickened skin, Weight loss, Hyp... |
ORPHA:79430 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Scaling skin, Periungual erythema, Atria... |
OMIM:308205 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Cutis marmorata, Increased circulating interleu... |
OMIM:301220 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Scoliosis, Short neck |
OMIM:611890 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Anhydramnios, Polydac... |
OMIM:613885 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... |
OMIM:188400 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Cat-Eye Syndrome |
|
Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Downslanted palpebral fissu... |
ORPHA:195 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Ketonuria, Elevated circulating alanine aminotransferase concentration, L... |
OMIM:261680 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Cutaneous photosensitivity, Small for gestational age |
OMIM:278780 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Cong... |
ORPHA:312 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling sk... |
ORPHA:166113 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septa... |
OMIM:614866 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Abnormality of the menstrual cycle, Microcytic anemia, Patent ductus arteriosus, Hy... |
ORPHA:90308 |
Leopard Syndrome 1 |
|
Scapular winging, Short stature, Limited elbow movement, Missing ribs, Short neck, Kyphoscoliosis... |
OMIM:151100 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Kyphoscoliosis |
ORPHA:98805 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st... |
ORPHA:3464 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Small scrotum, Hypospadias, Short stature, Cryptorchidism, Thickened skin, Abnormalit... |
ORPHA:2505 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu... |
OMIM:308800 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Small for gestational age, Kyph... |
ORPHA:2044 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno... |
ORPHA:1667 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar... |
ORPHA:477 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Premature Aging Syndrome, Penttinen Type |
|
Short palm, Prominent superficial veins, Flexion contracture of finger, Prematurely aged appearan... |
OMIM:601812 |
Nizon-Isidor Syndrome |
|
Prominent fingertip pads, Long fingers, Thoracolumbar kyphosis, Pes planus |
OMIM:618872 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Cryptorc... |
ORPHA:1194 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Coxa valga, Hypoplastic iliac wing, Long fingers, Flexion contracture, ... |
OMIM:617561 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Distally placed thumb, Encephalocele, Hypospadias, Short stature, Tapered finger, ... |
OMIM:619148 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormal fingernail morphology, Skin ulcer, Fine... |
ORPHA:1806 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Flexion contracture, Tapered finger |
OMIM:613870 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Clinodactyly of the 5th finger, Micrognathia, Failure to thrive in infancy, Tapered finger |
OMIM:618829 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Hypoplasia of the iris, Chorioretinal coloboma, Abnormality of the nail, I... |
ORPHA:2092 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Finger syndactyly, Hypospadias, Polyhydramnios, Cryptorchidism... |
ORPHA:3376 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent d... |
OMIM:244300 |
Prolactinoma |
|
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p... |
ORPHA:2965 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Lon... |
OMIM:300960 |
2P15P16.1 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, G... |
ORPHA:261349 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestati... |
OMIM:229850 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypopla... |
OMIM:619151 |
Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Nephropathy, Hepatomegaly, Elevated circulating aspar... |
ORPHA:2088 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Leukonychia, Hy... |
OMIM:616295 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... |
OMIM:619381 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint laxity, Arachnodactyly, Generalized joint laxity, Distal arthrogryposis,... |
OMIM:601776 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Diaphanospondylodysostosis |
|
Epicanthus, Hypoplastic fingernail, Increased nuchal translucency, Short nose, Disproportionate s... |
OMIM:608022 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter... |
OMIM:618644 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... |
ORPHA:85443 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Ne... |
OMIM:609638 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Upslanted palpebr... |
ORPHA:1133 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Kyphoscoliosis, Absent thumb,... |
ORPHA:500150 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Pes planus, Vertebral fusion, Overlapping toe, Sacral di... |
OMIM:213980 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Hip dislocation, Hip dysplasia, Talipes equinovarus, Camptodactyly, Joint contrac... |
OMIM:617403 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
ORPHA:171851 |
Developmental And Epileptic Encephalopathy 80 |
|
Micrognathia, Tapered finger, Growth delay, Talipes equinovarus, Triphalangeal thumb, Failure to ... |
OMIM:618580 |
Leprosy |
|
Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the spleen, Testicular mass, L... |
ORPHA:548 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Syndactyly, Short stature, Anemia of inadequate production, Anisoc... |
OMIM:615631 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short stature, C... |
OMIM:227650 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, Synophrys, Coloboma, Chorioretinal coloboma, Otitis media, ... |
OMIM:619475 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pes planus, Short stature, Rocker bottom foot, Micrognathia, Tapered finger |
OMIM:620070 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of alkaline pho... |
OMIM:137920 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Generalized abnormality of ... |
ORPHA:95455 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... |
ORPHA:83471 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Sandal gap, Supernumerary nipple, Ventricular septal defect, Sparse eyebrow, Crypt... |
OMIM:612530 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Growt... |
OMIM:231530 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Epicanthus, Cutis marmorata, Ventricular septal defect, Polydactyly, Microphthalmia, ... |
OMIM:602501 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Pes planus, Sandal gap, Hallux varus, Tapered finger, Micrognathia, Short neck, Dermato... |
OMIM:158170 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Immunodeficiency 59 And Hypoglycemia |
|
Short stature, Slender finger, Micrognathia |
OMIM:233600 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Lon... |
OMIM:617746 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... |
ORPHA:73263 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Postnatal growth retarda... |
ORPHA:2896 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Low anterior hairline, Coloboma, Left ventric... |
OMIM:613153 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Dry skin, Hyp... |
ORPHA:238468 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduri... |
OMIM:617156 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, M... |
OMIM:614376 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Micrognathia, Short neck, Long fingers, Hip dislocation, Positional fo... |
ORPHA:96092 |
Adams-Oliver Syndrome 2 |
|
Decreased fetal movement, Alopecia, Cutis marmorata, Low anterior hairline, Narrow palpebral fiss... |
OMIM:614219 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactiv... |
OMIM:614204 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Trisomy 18 |
|
Atrial septal defect, Abnormal toenail morphology, Iris coloboma, Short stature, Spina bifida, Cr... |
ORPHA:3380 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Heart murmur, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Adrenal hypoplasia, Aminoaciduria, Ulnar deviation of the hand or of fingers... |
OMIM:214100 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Short stature, Single transverse pal... |
OMIM:619841 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Single transverse palmar crease, Proximal placement of thumb, Micromelia, Microgna... |
OMIM:122470 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... |
OMIM:192350 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt... |
OMIM:610768 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia,... |
ORPHA:2795 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal... |
ORPHA:367 |
Fucosidosis |
|
Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis, Short stature... |
OMIM:230000 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoi... |
ORPHA:1791 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Small for gestational age,... |
OMIM:234100 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Bicuspid aortic valve, Coloboma, Short palm, Clinodactyly of the 5th finger, A... |
ORPHA:508498 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... |
OMIM:617571 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Amnio... |
OMIM:601952 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormality of female external genitali... |
ORPHA:920 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Brachydactyly, Prematurely aged appearance, Bowing of... |
ORPHA:1318 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pes planus, Hip dysplasia, Failure to thrive, Tapered finger |
OMIM:616977 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, Hypoplasia of the thymus, Otitis ... |
OMIM:612541 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Atrial septal defect, Ventricular septal defect... |
ORPHA:488618 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Wid... |
ORPHA:93267 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Pes planus, Overlapping toe, Short stature, Kyphoscoliosis, Knee flexion contractur... |
OMIM:617402 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abnormal tibia morphology, Bone cyst,... |
ORPHA:363700 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hemolytic anemia, Proteinuria, E... |
OMIM:614034 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly |
OMIM:619273 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Wide nasal... |
OMIM:620098 |
3-Methylglutaconic Aciduria, Type Viib |
|
Decreased fetal movement, Rhizomelia, Polyhydramnios, Recurrent pneumonia, Growth delay, Leukopen... |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Pes planus, Short stature, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,... |
OMIM:212066 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... |
ORPHA:168558 |
Radio-Tartaglia Syndrome |
|
Pes planus, Micrognathia, Tapered finger, Obesity, Scoliosis, Pes cavus, Brachydactyly |
OMIM:619312 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Single tra... |
ORPHA:444072 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Intrauterine growth retardation, S... |
OMIM:227645 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, Neutropenia, Atrial septal defect, H... |
OMIM:277380 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa... |
OMIM:220110 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... |
ORPHA:534 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Bowing of the long bones, Redundant skin, Lack of skin elasticity, E... |
OMIM:612940 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Hypothyroidism, Abnormality of the gallbladder, Vascular skin abnorma... |
ORPHA:349 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Upslanted palpebral fissure, Camptodactyly, Long palpebral fissure, Microphthalmia, Sparse latera... |
OMIM:619694 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Polyhydramnios, Cardiomegaly, Large for gestational age, Su... |
ORPHA:116 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Prominent superficial veins, Toenail dysplasia |
OMIM:615907 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k... |
OMIM:600901 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Toluene Embryopathy |
|
Micrognathia, Short stature, Tapered finger |
ORPHA:1920 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic... |
ORPHA:254704 |
Cat Eye Syndrome |
|
Atrial septal defect, Epicanthus, Short stature, Ventricular septal defect, Absent radius, Patent... |
OMIM:115470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the p... |
OMIM:300967 |
Irida Syndrome |
|
Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich... |
ORPHA:209981 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Megacystis, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Hepatic fib... |
OMIM:613550 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Lissencephaly 6 With Microcephaly |
|
Single transverse palmar crease, Tapered finger |
OMIM:616212 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, A... |
ORPHA:90324 |
Congenital Myopathy 13 |
|
Short stature, Kyphoscoliosis, Micrognathia, Flexion contracture, Bilateral talipes equinovarus, ... |
OMIM:255995 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Atrophoderma Vermiculata |
|
Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Short stature, Single transverse palmar crease, Coxa valga... |
OMIM:619297 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypospadias, Sparse eyebr... |
ORPHA:464738 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Alopecia, Subcutaneous lipoma, Ventricular septal defect, Cryptorchidism, H... |
OMIM:613001 |
X-Linked Intellectual Disability, Pai Type |
|
Intrauterine growth retardation, Tapered finger |
ORPHA:85322 |
Pediatric-Onset Graves Disease |
|
Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentr... |
ORPHA:525731 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Growth delay, Hypocholestero... |
ORPHA:71 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Trichohepatoneurodevelopmental Syndrome |
|
Polyhydramnios, Synophrys, Coarse hair, Clinodactyly of the 5th finger, Bilateral coxa valga, Tho... |
OMIM:618268 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Small scrotum, Overlapping toe, Ulnar deviation of the hand, Sparse eyebrow, Cryptorc... |
OMIM:300895 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Abnormal external genitalia, Polyhy... |
ORPHA:3469 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia... |
OMIM:618278 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent respiratory infections, Decreased fetal movement, Autoimmune hemolytic an... |
OMIM:618495 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, ... |
ORPHA:543 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... |
OMIM:220210 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Joint laxity, Toe syndactyly, Single transverse palmar crease, Micrognathia, Tapered finger, Flex... |
OMIM:619720 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr... |
OMIM:611881 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Growth delay, Scoliosis, Camptodactyly, ... |
OMIM:601353 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Hyperparakeratosis, Periorific... |
OMIM:614594 |
Peho Syndrome |
|
Edema of the dorsum of feet, Tapered finger |
OMIM:260565 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine |
OMIM:300539 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Proximal pl... |
OMIM:261540 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Recur... |
ORPHA:2399 |
Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Hepati... |
ORPHA:79318 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Toe syndactyly, Short stature, Cryptorchidism, Patent ductus ar... |
ORPHA:250989 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Renal cyst, Coloboma, Vesicoureteral reflux, Clinodactyly of the 5th finger, Patent foramen ovale... |
OMIM:616975 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir... |
OMIM:252900 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Epicanthus, Hypospadias, Ventricular septal defect, Recurrent pneumonia, 2-... |
OMIM:616449 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Long fingers, Wid... |
OMIM:618371 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Atrial septal defect, Bilateral fetal pyelectasis, Polyhydramnios, Large for gestat... |
OMIM:300868 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Progeroid facial appearance, Upslanted palpebral fissure, Patchy alopecia, Broad d... |
OMIM:617763 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, Low anterior hairline, Papillary c... |
OMIM:180849 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Ectodermal dysplasia... |
OMIM:613610 |
Temtamy Syndrome |
|
Telecanthus, Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Mi... |
ORPHA:1777 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
Tolchin-Le Caignec Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia |
OMIM:618971 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia |
OMIM:601794 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, ... |
OMIM:601076 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Leukocytosi... |
ORPHA:20 |
Chromosome 17Q12 Deletion Syndrome |
|
Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Short stature, Highly arched eyeb... |
OMIM:614527 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weight l... |
ORPHA:1332 |
Noonan Syndrome 1 |
|
Short stature, Failure to thrive in infancy, Kyphoscoliosis, Micrognathia, Short neck, Postnatal ... |
OMIM:163950 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Clinodactyly of the 5th toe, Postnatal growth retardation, Crypto... |
OMIM:614225 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Short stature, Short toe, 2-3 toe syndactyl... |
OMIM:139210 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyl... |
OMIM:614424 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Joint hyperflexibility, Six lumbar vertebrae, Clinodactyly of the 5th finger, Fai... |
ORPHA:65286 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Elevated circulating creatine kinase ... |
ORPHA:904 |
Ichthyosis Prematurity Syndrome |
|
Premature birth, Allergic rhinitis, Polyhydramnios, Caseous vernix-like desquamation, Dermatograp... |
OMIM:608649 |
Mevalonic Aciduria |
|
Failure to thrive, Short stature, Failure to thrive in infancy, Kyphoscoliosis |
OMIM:610377 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Growth delay, Short stature, Kyphoscoliosis, Absent Achilles reflex |
ORPHA:447760 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Penile freckling, Hyperkeratosis, Arthritis, Scrotal hyperpigment... |
ORPHA:79145 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, ... |
OMIM:301066 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... |
OMIM:241080 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Short stature, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Obesity, Tal... |
OMIM:309580 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematur... |
ORPHA:319251 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Hypera... |
ORPHA:415 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Almond-shaped palpeb... |
OMIM:619695 |
Brucellosis |
|
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... |
ORPHA:1304 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Scoliosis, Broad thumb, Bilateral single transverse palm... |
ORPHA:1236 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Multicystic kidney dysplasia, Diabetes mellitus... |
ORPHA:93111 |
Refsum Disease |
|
Renal insufficiency, Short metacarpal, Splenomegaly, Cardiomyopathy, Hammertoe, Nail dysplasia, I... |
ORPHA:773 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Short stature, Tapered finger, Short thumb, Clinodactyly of the 5th finger, Abnormal vertebral mo... |
OMIM:616728 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Posta... |
OMIM:264480 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Ptosis, Short stature, Severe short stature, A... |
OMIM:309900 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Epicanthus, Premature birth, Short stature, Polyhydramnio... |
OMIM:618541 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Short sta... |
ORPHA:319182 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Chime Syndrome |
|
Short palm, Sparse hair, Aplasia/Hypoplasia of the phalanges of the hand, Skin ulcer, Acute leuke... |
ORPHA:3474 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati... |
ORPHA:324540 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... |
OMIM:614457 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... |
OMIM:613458 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Absent eyelashes, Abnormal ... |
ORPHA:861 |
Galloway-Mowat Syndrome 4 |
|
Short stature, Tapered finger |
OMIM:617730 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Cardiomyopathy,... |
ORPHA:746 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, ... |
OMIM:613795 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Thrombocytopenia, Growth delay, Neutropenia, Microphthalmia, Leukemia,... |
OMIM:614082 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Fifth finger distal phalanx clinodactyl... |
OMIM:257850 |
Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, Intraut... |
ORPHA:2117 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Microcytic anemia, Low anterior hairline, Skin vesicle, Abnormal isohemaggl... |
ORPHA:99843 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis... |
ORPHA:464311 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Laterally curved eyebrow, Atrial septal defect, Contr... |
OMIM:300166 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... |
OMIM:619208 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphysea... |
ORPHA:163966 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Tapered finger, Micrognathia, Talipes equinovarus, Short palm, Broad t... |
OMIM:614501 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... |
ORPHA:91347 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Respiratory tract infection, Hepatosplenomegaly, Telangiec... |
ORPHA:93400 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Th... |
OMIM:257980 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Diaphyseal sclerosis, Hepatosplenomegaly, Distal ren... |
OMIM:259730 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Patent ductus arterios... |
ORPHA:2547 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis, Bitot spots of the conjunctiva |
OMIM:277350 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Broad hallux, Urinary incontinence, Patent ductus arteriosus, 2-3 toe syndactyly, Joi... |
OMIM:619934 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Tapered finger |
OMIM:181600 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Acne, Abnorm... |
ORPHA:2796 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Tapered finger, Spinal rigidity, Flexion contracture, Growth delay, Pectoralis hypo... |
OMIM:254940 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Abnormal eyelid morphology, Scaling skin, Atrial septal defect, Abnormal toenail mo... |
ORPHA:2526 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation |
ORPHA:137608 |
Split Cord Malformation |
|
Back pain, Pes planus, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Lower l... |
ORPHA:573278 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem... |
OMIM:619525 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene... |
OMIM:603554 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Short stature, Camptodactyly of finger, Heparan s... |
OMIM:607015 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Clinodactyly |
OMIM:615560 |
Immunodeficiency 7 |
|
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidi... |
OMIM:615387 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Gonadal calcification, Increased circulating surfactant prot... |
ORPHA:60025 |
Proteus-Like Syndrome |
|
Venous insufficiency, Retinal detachment |
ORPHA:2969 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Pre... |
ORPHA:79477 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Alopecia, Hemolytic anemia, Pericarditis, Myositis, Skin rash, Gastritis, Splenomeg... |
ORPHA:809 |
Viss Syndrome |
|
Long toe, Microretrognathia, Pes planus, Joint laxity, Arachnodactyly, Rocker bottom foot, Joint ... |
OMIM:619472 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaund... |
ORPHA:100085 |
Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Anemia, Stage 5 chronic kidn... |
OMIM:222700 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Short stature, Tapered finger |
ORPHA:401777 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Erythema, Abnormality of female external genitalia, Abnormality of tu... |
ORPHA:83453 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture... |
ORPHA:2108 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, R... |
ORPHA:2728 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Eyelid coloboma, Choriore... |
ORPHA:138 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Short stature, Micrognathia, Short thumb, Slender finger, Cutaneous syndactyly, Rad... |
OMIM:619325 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Small for gestatio... |
ORPHA:404454 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Osteoarthritis, Periodontitis, Uterine rupture, Alopecia, Hypospadias, Prematurel... |
ORPHA:286 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos... |
OMIM:613280 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Failure to thrive, Sparse eyelashes, Hypospadias, Short stature, Sparse eyebrow, Unilateral micro... |
OMIM:618874 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Flexion contrac... |
ORPHA:2712 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:606612 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Decreased adipose tissue around neck, Prominent superficial veins, Proger... |
OMIM:608612 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:1473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Flexion contr... |
ORPHA:3042 |
Aymé-Gripp Syndrome |
|
Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Postnatal growth retardation... |
ORPHA:1272 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal lung lobation, Abnormal finger morphology, Renal cyst, Chorioret... |
ORPHA:744 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Chromomycosis |
|
Keratitis, Abnormal lung morphology, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sic... |
ORPHA:182 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Micrognathia, Long fingers, Distal arthrogryposis, Patellar dislocatio... |
OMIM:617557 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Me... |
OMIM:615632 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dilated c... |
OMIM:611126 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca... |
ORPHA:555905 |
Harlequin Ichthyosis |
|
Recurrent respiratory infections, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythrod... |
ORPHA:457 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Short stature, Atrial septal defect, Microphthalmia, Intrauterine growth... |
ORPHA:1915 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Pes planus, Joint laxity, Kyphoscoliosis, Synostosis involving the 1st metacarpal,... |
ORPHA:466791 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Prematurely aged appearance, Short stature, Progeroid facial appearance, Ab... |
ORPHA:90154 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Large for gestational age, Tapered finger, Tracheomalacia, Failure to thrive |
ORPHA:261652 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Scoliosis |
ORPHA:352490 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Elevated circulating creatine kinas... |
OMIM:617255 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Lymphopenia, Aplasia of the thymus, Eosinophilia, Pneumonia, Gen... |
OMIM:602450 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Sclerodactyly, Ovotestis, Orthoke... |
OMIM:610644 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp... |
ORPHA:412 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Short stature, Overlapping toe, Wide nasal bridge, Abnormal heart morphology, Narrow ... |
OMIM:618571 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Ma... |
OMIM:609049 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... |
OMIM:303600 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Short stature, Ventricular septal de... |
ORPHA:85194 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Short neck, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly |
OMIM:301091 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia |
ORPHA:3169 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Polyhydramnios, Large for gestational age, ... |
ORPHA:254534 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Telecanthus, Ureteral stenosis, Slow-growing hair, Short stature, Highly arched eyebr... |
OMIM:272950 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Temtamy Syndrome |
|
Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Chorioretinal coloboma, Microphthalmia... |
OMIM:218340 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... |
ORPHA:2753 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Hydrolethalus |
|
Anophthalmia, Premature birth, Polyhydramnios, Micromelia, Cryptorchidism, Postaxial hand polydac... |
ORPHA:2189 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi... |
ORPHA:77259 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal lactate dehydrogenase level, Abnormal... |
ORPHA:899 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... |
ORPHA:98870 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Pes planus, Kyphoscoliosis, Atlantoaxial instability, Talipes equinovarus |
OMIM:614557 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Joint hypermobility, Micrognathia |
OMIM:614437 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Unilateral renal agenesis, Increased circulating dehydroepiand... |
OMIM:158330 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Scoliosis, Camptodactyly, Clinodactyly |
OMIM:616737 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger |
OMIM:239300 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... |
OMIM:611134 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... |
OMIM:612281 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal lung lobation, Abnormal finger morphology, Atri... |
ORPHA:2538 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Obesity, Tapered finger |
OMIM:619680 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins, Rod-cone dystrophy |
ORPHA:100991 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Pseudoxanthoma Elasticum |
|
Thickened nuchal skin fold, Abnormal endocardium morphology, Telangiectasia of the skin, Acne, Sk... |
ORPHA:758 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis |
ORPHA:99750 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating IgG level, Abnormal T cell cou... |
ORPHA:331206 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Coloboma |
ORPHA:324416 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchi... |
ORPHA:2059 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Failure to thrive, Anemia |
OMIM:615085 |
Inherited Creutzfeldt-Jakob Disease |
|
Stroke-like episode, Astrocytosis |
ORPHA:282166 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger |
OMIM:612949 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Micromelia, Cryptorchidism, Congenital h... |
ORPHA:93271 |
Gracile Bone Dysplasia |
|
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Micropenis, Hypocalcemia, Aniridia... |
OMIM:602361 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Joint stiffness, Kyphoscoliosis, Micrognathia |
OMIM:618820 |
Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/head mor... |
ORPHA:2788 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Col... |
OMIM:615665 |
Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Micropenis |
OMIM:308350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:613155 |
Wolf-Hirschhorn Syndrome |
|
Hyperconvex fingernails, Atrial septal defect, Iris coloboma, Accessory spleen, Hypospadias, Shor... |
OMIM:194190 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... |
OMIM:200990 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Cryptorchidi... |
ORPHA:568 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Epicanthus, Redundant neck skin, Overlapping toe, Polyhydramnios, Postnatal growth reta... |
ORPHA:254528 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:613095 |
Peters Plus Syndrome |
|
Ureteral duplication, Polyhydramnios, Micromelia, Bicuspid pulmonary valve, Clitoral hypoplasia, ... |
ORPHA:709 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand... |
OMIM:158310 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Female external genitalia in individual with 46,... |
ORPHA:206484 |
Deeah Syndrome |
|
Hepatomegaly, Epicanthus, Decreased hemoglobin concentration, Short stature, Decreased response t... |
OMIM:619004 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Clinodactyly of the 5th finger, Syndactyly, Alopecia, Psoriasiform dermatit... |
ORPHA:69085 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Conjunctival hyperemia, Cellular urinary casts, Jaundice, ... |
ORPHA:509 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs... |
OMIM:148210 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... |
ORPHA:672 |
Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Thickened nuchal skin fold, Brachydactyly, Hypogonadotropic... |
ORPHA:648 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... |
OMIM:224120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Short stature, Craniosynostosis, Tapered finger, Micrognathia, Small for gestati... |
OMIM:309590 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Acantholysis, Epidermal thickening, Abnormal labia... |
ORPHA:69745 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Thromboc... |
OMIM:619005 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Short neck, Micrognathia |
OMIM:156610 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... |
ORPHA:90307 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Craniosyno... |
OMIM:608156 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Failure to thrive, Epicanthus, Toe syndactyly, Intrahepatic ch... |
ORPHA:46059 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Abnormal circulating selenium concentration, Decreased serum iron, Del... |
ORPHA:89842 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... |
OMIM:229600 |
Milroy Disease |
|
Epicanthus, Erysipelas, Hydrocele testis, Hyperkeratosis, Toenail dysplasia |
ORPHA:79452 |
Congenital Myopathy 17 |
|
Overlapping toe, Failure to thrive in infancy, Tapered finger, Distal arthrogryposis, Hand clench... |
OMIM:618975 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Talipes, Tapered finger, Small hand, Short foot, Growth delay, ... |
OMIM:301044 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:615356 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Hepatoblastoma, Clinodactyly of the 5t... |
ORPHA:373 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal eyelid morphology, Epispadias, Abnormal fallopian tube morphology, Abnorma... |
ORPHA:2556 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Epicanthus, Short metacarpal, Cryptorchidism, Wide nasal bridge, Growth delay, Campto... |
OMIM:614230 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Short stature, Progeroid faci... |
ORPHA:90153 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Obesity, Scoliosis, Tibial torsion |
OMIM:618653 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Pes planus, Broad hallux, Sandal gap, Short stature, Tapered finger, Hyperlordosis,... |
OMIM:615873 |
Familial Benign Copper Deficiency |
|
Aplasia/Hypoplasia of the fovea, Short stature, Decreased circulating copper concentration, Acne,... |
ORPHA:1551 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal femur morphology, Nephropathy, Emphysema, Short stature, An... |
ORPHA:324 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Lacrimal duct atresia, Pri... |
OMIM:603457 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... |
OMIM:617337 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Short stature, Hypoplasia of the radius |
ORPHA:140952 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal... |
OMIM:601847 |
7Q11.23 Microduplication Syndrome |
|
Pes planus, Sacral dimple, Short stature, Single transverse palmar crease, Craniosynostosis, Micr... |
ORPHA:96121 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Gapo Syndrome |
|
Hepatomegaly, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Prominent scalp veins, Spar... |
OMIM:230740 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Rocker bottom foot, Antecubital pterygium, Renal hypoplasia, Wide nasal brid... |
OMIM:616258 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Abnormal lun... |
ORPHA:3301 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Adrenal hypoplasia, Hypoplasia of the thymus, Multiple bladder diverticula, Emphy... |
OMIM:613177 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Scimitar Syndrome |
|
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl... |
ORPHA:185 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy, Oligohydr... |
OMIM:619053 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Elevated circulating creatine kinase concentrati... |
ORPHA:370959 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin... |
OMIM:210200 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent... |
ORPHA:77298 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Nail dys... |
ORPHA:158681 |
19P13.13 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Long fingers, Deep plantar creases, Clinodactyly |
ORPHA:357001 |
Goldberg-Shprintzen Syndrome |
|
Short neck, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyly of the 5th fi... |
OMIM:609460 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi... |
ORPHA:444077 |
Renpenning Syndrome 1 |
|
Brittle hair, Coloboma, Atrial septal defect, Clinodactyly of the 5th finger, Sparse hair, Hyposp... |
OMIM:309500 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Hemolytic anemia, Splenomegaly, Jaundice, ... |
OMIM:263700 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1545 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlip... |
ORPHA:444490 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Brittle hair, Anophthalmia, Osteopathia striata, Short metatar... |
OMIM:305600 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Sacral dimple, Shor... |
OMIM:180700 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Umbilical hernia, Joint contract... |
OMIM:618914 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ... |
OMIM:164210 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis... |
OMIM:620185 |
Peho Syndrome |
|
Tapered finger, Limitation of joint mobility, Flexion contracture, Pedal edema, Arthrogryposis mu... |
ORPHA:2836 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Hepatomegaly, Calcinosis, Coxa ... |
OMIM:248370 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
Seckel Syndrome 2 |
|
Small for gestational age, Hypospadias, Short stature, Ectopic kidney, Growth delay, Clinodactyly... |
OMIM:606744 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Small scrotum, Hypospadias, Short stature, Tapered finger, Cryptorchidism, Synophrys,... |
OMIM:616734 |
Pemphigus Vulgaris |
|
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:464282 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Synophrys, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Clinodactyly of the 5th fi... |
ORPHA:544488 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Myositis, Sinusit... |
OMIM:617591 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers, Recurrent lower resp... |
OMIM:254090 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Hypoplastic fingernail, Neonatal insulin-dependent diabetes mellitus, Ventricular s... |
ORPHA:96191 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Epicanthus, Absent platelet dense granules, Chronic oral candidiasis, Albinism, Dec... |
OMIM:608233 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Ketonuria, Hypospadias, Small for gestational age, Highly arched eyeb... |
OMIM:220111 |
Chromosome 15Q25 Deletion Syndrome |
|
Short stature, Short neck, Long fingers, Growth delay, Intrauterine growth retardation |
OMIM:614294 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Anophthalmia, Abnormal lung lobation, Urethral atresia, Malfo... |
ORPHA:2052 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Entropion, Severe short stature, Bilateral cryptorchidism, Keratitis, Gonadal hypo... |
OMIM:278800 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agene... |
OMIM:617914 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Limb joint contracture, Tapered finger, Flexion contracture, Truncal obesity, Scol... |
OMIM:301072 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo... |
ORPHA:857 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage |
ORPHA:221061 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261537 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Wide nasal bridge, Upper eyelid coloboma, Microphthalmia |
OMIM:613456 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Sialidosis Type 2 |
|
Kyphosis |
ORPHA:87876 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Hypoplasia of penis, Camptodactyly of finger, Eczema, Cryptorchidi... |
ORPHA:284160 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti... |
OMIM:614941 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Epicanthus, Severe short stature, Abnormality of subcutaneous fat tissue, Coxa valga, Avascular n... |
ORPHA:1901 |
Monosomy 9P |
|
Epicanthus, Hypospadias, Thin nail, Highly arched eyebrow, Blepharophimosis, Proximal placement o... |
ORPHA:261112 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Lymphocytosis, Neutropenia, He... |
ORPHA:50918 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Hy... |
ORPHA:2328 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia |
OMIM:126320 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Short stature, Decrea... |
OMIM:614008 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased... |
ORPHA:453499 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Brachydactyly, Severe short stature, Hypospadias, E... |
ORPHA:2658 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone... |
OMIM:617088 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Amniotic constriction ring, Honeycomb palmoplantar hyperkeratosis... |
OMIM:604117 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Hydrops fetalis, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... |
OMIM:557000 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pustule, Erythema, Crusting erythematous dermatitis, Scali... |
ORPHA:79481 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, ... |
ORPHA:137675 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal hair morpholo... |
OMIM:607597 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Short stature, Ventricular septal defect, Ovotestis, Hypoplasia of... |
OMIM:309801 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficiency, Hypertension, Va... |
ORPHA:542643 |
Frontorhiny |
|
Encephalocele, Epicanthus, Brachydactyly, Camptodactyly of finger, Widow's peak, Finger clinodact... |
ORPHA:391474 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Sacral dimple, Toe syndactyly, Single transverse palmar crease, Tapered finger... |
ORPHA:459070 |
Okamoto Syndrome |
|
Redundant neck skin, Urinary incontinence, Abnormally large globe, Primum atrial septal defect, A... |
ORPHA:2729 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin ra... |
ORPHA:319213 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2047 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... |
ORPHA:454831 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Telecanthus, Splenomegaly, W... |
ORPHA:163746 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger |
ORPHA:521445 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyl... |
OMIM:135900 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... |
ORPHA:314473 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Dry hair, Epicanthus, Slow-growing hair, Neurogenic bladder, Blepharophimos... |
OMIM:164200 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Premature birth, Abnormalit... |
ORPHA:3385 |
Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... |
ORPHA:56 |
Williams-Beuren Syndrome |
|
Hallux valgus, Osteopenia, Joint laxity, Short stature, Down-sloping shoulders, Kyphoscoliosis, F... |
OMIM:194050 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal corticomedullary diffe... |
OMIM:120330 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Polyhydramnios, Cryptorchidi... |
ORPHA:2166 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Postnatal growth retardation, Flexi... |
ORPHA:487796 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, V... |
ORPHA:2152 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Short stature, Preaxial hand polydactyly, Nasolacrimal duct obstruc... |
ORPHA:1297 |
Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Overlapping toe, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Gro... |
OMIM:613884 |
Proboscis Lateralis |
|
Anophthalmia, External genital hypoplasia, Abnormal morphology of bony orbit of skull, Eyelid col... |
ORPHA:141099 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Neurogenic bladder, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Deafness, X-Linked 7 |
|
Telecanthus, Wide nasal bridge, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... |
ORPHA:2975 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis |
ORPHA:98863 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Aspiration pneumonia, Atrial septal defect, Vesicoureteral reflux, Patent ... |
ORPHA:438213 |
Bethlem Myopathy |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Interphalangeal join... |
ORPHA:610 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis |
ORPHA:171436 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Neoplasm of the lung, Pa... |
ORPHA:79501 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ... |
OMIM:203700 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Thick eyebrow, Hyperextensibility of the finger joints, Thick hair, Highly arched e... |
OMIM:135500 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Small f... |
OMIM:260400 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Mosaic Variegated Aneuploidy Syndrome |
|
Atrial septal defect, Epicanthus, Multicystic kidney dysplasia, Short stature, Vaginal neoplasm, ... |
ORPHA:1052 |
Rodrigues Blindness |
|
Short stature, Fine hair, Ectodermal dysplasia, Sparse hair, Microphthalmia |
OMIM:268320 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Weight loss, Enthesitis, Hyperk... |
ORPHA:29207 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Epididymitis,... |
ORPHA:2035 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Malformed lacrimal duct, Abnormal thymus morpholog... |
OMIM:219000 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Renal cyst, Premature graying of hair, Sparse hair, Cl... |
OMIM:113620 |
Scleromyxedema |
|
Aged leonine appearance, Abnormality of thyroid physiology, Elevated circulating creatine kinase ... |
ORPHA:167635 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Synophrys, Short nose, ... |
ORPHA:364577 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, S... |
OMIM:616026 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Abnormal eyel... |
ORPHA:909 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:314580 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Inflammation of the large intestine, Colitis, Conjunctivitis, Periodontitis, ... |
ORPHA:2908 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261552 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Eczem... |
ORPHA:64745 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Metaphyseal cupping, Metaphyseal cupping of proximal phalanges, Metaph... |
OMIM:300863 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Kyphos... |
OMIM:309800 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal metaphysis morphology, Tapered finger |
ORPHA:86818 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... |
OMIM:601803 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni... |
OMIM:603903 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Sacral dimple, Talipes equinovarus, Tapered finger |
OMIM:613603 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Momo Syndrome |
|
Epicanthus, Cutis marmorata, Short stature, Hyperconvex nail, Large for gestational age, Abnormal... |
ORPHA:2563 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu... |
OMIM:130050 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Upslanted palpebral fissure, Microphthalmia, Epicanthus, Downslanted palpebral fissures |
OMIM:152950 |
Stevenson-Carey Syndrome |
|
Coloboma, Camptodactyly, Atrial septal defect, Microphthalmia, Downslanted palpebral fissures |
OMIM:611961 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotranspositio... |
OMIM:306955 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Short stature, Small for gestational age, Failure to thrive in infa... |
ORPHA:268261 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,... |
OMIM:610125 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Growth del... |
OMIM:616920 |
Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Progeroid facial appearance, Hypogonadism, Microphthalmia, Cutaneous photosensitivity |
OMIM:610651 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Short neck,... |
ORPHA:280633 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98853 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... |
ORPHA:99827 |
Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Short stature, Cachexia, Sandal gap, Clinodactyly... |
ORPHA:808 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... |
OMIM:618183 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Short stature, Cardiomegaly, Synophrys, Wide nasal bridge, Colo... |
ORPHA:97297 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Popliteal pt... |
OMIM:619339 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Hypospadias, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Colobo... |
OMIM:615877 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Prominent finger... |
OMIM:619539 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619981 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Short stature, Recurrent skin infections, Recurrent pneumonia, C... |
ORPHA:158668 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... |
OMIM:173200 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Hyperkeratosis |
ORPHA:79431 |
Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:963 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:314769 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Short stature, Coloboma, Shallow orbits, Clinodactyly of the 5th finger, Microphthalmia, Decrease... |
OMIM:617306 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Sever... |
OMIM:266810 |
Classical Ehlers-Danlos Syndrome |
|
Osteoarthritis, Premature rupture of membranes, Ecchymosis, Acrocyanosis, Dislocated radial head,... |
ORPHA:287 |
Neurofibroma |
|
Palmar neurofibroma, Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Cutis marmorata, Bicuspid aortic valve, Supernumerary ni... |
OMIM:100300 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Malar rash, Hyperkeratosis, Vasculitis in the... |
ORPHA:163525 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, ... |
OMIM:608091 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Coloboma, Elevated circulating creatine kinase concentration, Abnormally large globe |
OMIM:615249 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas... |
OMIM:119500 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Kabuki Syndrome |
|
Ptosis, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Short stature, Highly arch... |
ORPHA:2322 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Aicardi Syndrome |
|
Spina bifida, Proximal placement of thumb, Precocious puberty, Postnatal growth retardation, Opti... |
OMIM:304050 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Kyphosis, Scoliosis, Short neck |
OMIM:301041 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Coloboma, Shallow orbits, Atrial septal defect, Vesicoureteral reflux, Hyp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Coloboma, Shallow orbits, Atrial septal defect, Vesicoureteral reflux, Hyp... |
ORPHA:352665 |
Progressive Non-Fluent Aphasia |
|
Stroke, Astrocytosis |
ORPHA:100070 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Camptodactyly of toe, Obesity, Wide nasal ... |
ORPHA:251038 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Unilateral renal hypoplasia, Coloboma, Patchy a... |
ORPHA:2874 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Generalized hyperkeratosis, Shor... |
ORPHA:201 |
Currarino Syndrome |
|
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry |
ORPHA:1552 |
Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Micrognathia, Tapered finger, Scoliosis, ... |
ORPHA:261337 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis |
OMIM:300354 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Dec... |
OMIM:232220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Elevated circulating creatine kinase concentration, Optic nerve hypoplas... |
OMIM:236670 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Ventricular septal defect, Nonimmune hydrops fetalis, Yellow nails, Patent ductus arte... |
OMIM:153400 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Ramon Syndrome |
|
Short stature, Angiokeratoma, Enlarged labia minora, Telangiectasia, Hyperkeratosis, Decreased bo... |
OMIM:266270 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Glucagonoma |
|
Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Increased cir... |
ORPHA:97280 |
Monosomy 9Q22.3 |
|
Epicanthus, Ovarian fibroma, Large for gestational age, Cardiac fibroma, Polydactyly, Microphthal... |
ORPHA:77301 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Abnormal lung lobation, Renal cyst, Short palm, Hepatoblastoma, Atrial septal def... |
OMIM:312870 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Pulmonary artery sling, Supernumerary nipple, Short stature, Ventricu... |
OMIM:235730 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Wide nasal bridge, Upsl... |
OMIM:614083 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Short stature, Single transverse palmar crease, Tapered finger, Short thumb, Short foo... |
OMIM:619522 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature |
OMIM:614833 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Anhidrotic ectodermal dysplasi... |
OMIM:612132 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hype... |
ORPHA:258 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Proteinuria, Mitral valve calcifica... |
ORPHA:77261 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valv... |
ORPHA:667 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Severe short stature, Hypospadias, Optic nerve hypoplasia, Unilateral rena... |
ORPHA:468631 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... |
ORPHA:3384 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Hype... |
ORPHA:75857 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Pes planus, Tapered finger, Narrow palm, Growth delay, Hand clenching, Failure to thrive, Limited... |
OMIM:616973 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion, Short stature, Aortic valve calcification, Osteolytic defects of the phalang... |
OMIM:616298 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abdominal mass, ... |
ORPHA:2583 |
Aicardi Syndrome |
|
Precocious puberty, Optic disc coloboma, Small hand, Chorioretinal coloboma, Delayed puberty, Hep... |
ORPHA:50 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule |
ORPHA:38 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Preaxial polydactyly, Wide ... |
OMIM:243605 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Congenital Myopathy 22A, Classic |
|
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity |
OMIM:620351 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Scarring alopecia of scalp, Clinodactyly, Wide nasal bridge, Microphtha... |
OMIM:618727 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Ayme-Gripp Syndrome |
|
Short stature, Tapered finger, Radioulnar synostosis, Camptodactyly, Brachydactyly |
OMIM:601088 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Col... |
OMIM:147250 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone diaphyses, Post... |
ORPHA:93325 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Synophrys, Prominent fingertip pads, Clinodactyly of the 5th finger, Atria... |
OMIM:612474 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Coloboma, Otitis media, Vesicoureteral reflux, Atrial sept... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Coloboma, Otitis media, Vesicoureteral reflux, Atrial sept... |
ORPHA:353277 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic ... |
OMIM:124200 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Short stature, Progeroid facial appearance |
OMIM:300578 |
Periventricular Nodular Heterotopia 9 |
|
Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th finger, Prominent finger... |
OMIM:618918 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Short stature, Long eyebrows, Widow's peak, Wide nasal bridge, Long eyelashes, ... |
OMIM:201180 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facial appearance, Ven... |
OMIM:123700 |
Otodental Syndrome |
|
Lens coloboma, Retinal coloboma, Periodontitis, Otitis media with effusion, Microphthalmia, Iris ... |
ORPHA:2791 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p... |
OMIM:219700 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Optic disc coloboma, Clinodactyly of the 5th finger, Microphthalmia, Spina bifida ... |
OMIM:169550 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Telecanthus, Absent nipple, Ureteral stenosis, Highly arched ey... |
ORPHA:1299 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis |
OMIM:617190 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Vaginal atresia, Microphthalmia, Cr... |
OMIM:248450 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Adrenal insufficiency, Ptosis |
OMIM:615510 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Synophrys, ... |
OMIM:608670 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocar... |
OMIM:253800 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Small for gestational age, Premature birth, Cardiomegaly, Pericardial eff... |
ORPHA:555874 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Slc39A8-Cdg |
|
Failure to thrive in infancy, Short stature, Abnormal blood zinc concentration, Cutaneous syndact... |
ORPHA:468699 |
Pelger-Huet Anomaly |
|
Kyphosis |
OMIM:169400 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Scoliosis |
ORPHA:364028 |
Gm1 Gangliosidosis |
|
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:354 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Varicose veins, Arrhythmia, Conjunctivitis |
ORPHA:33001 |
Emanuel Syndrome |
|
Kyphosis, Sacral dimple, Scoliosis |
OMIM:609029 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Rett Syndrome |
|
Kyphosis, Scoliosis |
OMIM:312750 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syndactyly, Uretera... |
OMIM:617666 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Failure to thrive, Small scrotum, Female hypogonadism, Anophthalmia, Adrenal h... |
OMIM:607932 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Narrow palpebral fissure, Microphthalmia, Iris coloboma, Ptosis |
OMIM:615145 |
Trisomy 20P |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... |
ORPHA:261318 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Growth delay, Adenoma sebaceum, Microphthalmia, Iris coloboma |
ORPHA:2612 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Autoimmune thrombocytopenia... |
ORPHA:77293 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Short stature, Cachexia, Skin rash, Urticaria, Cutaneous photosensit... |
ORPHA:220295 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Iridocyclitis, Emphysema, Enlarge... |
OMIM:181000 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnio... |
OMIM:620025 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Downslanted palpebral fissures, Broad thumb, Brachydactyly |
OMIM:614526 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617988 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra... |
OMIM:229400 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Hammertoe, Cervix cancer |
OMIM:620189 |
Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Entropion, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal... |
OMIM:615113 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Brachydactyly, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's pea... |
ORPHA:306542 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hypoplastic toenails, Hydrops fetalis, Eyelid coloboma... |
ORPHA:268249 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Retinal coloboma |
OMIM:617107 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Septate vagi... |
ORPHA:2237 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uterus, Cryptorchid... |
ORPHA:322 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema, Moderate postnatal growth retardation, Coarse hair, Talipes equinov... |
OMIM:118650 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ul... |
ORPHA:93 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Abnormality of hair texture, Hypophosphaturia, Thickened skin, Synophrys, Hypoplastic... |
ORPHA:73223 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Growth delay, Anemia, Microphthalmia, Pelvic kidney, Radial dysplasia |
OMIM:617244 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Scoliosis, Tapered finger |
OMIM:619480 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp... |
ORPHA:2717 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia,... |
OMIM:278730 |
Holoprosencephaly 7 |
|
Synophrys, Bilateral microphthalmos, Wide nasal bridge, Upslanted palpebral fissure, Shallow orbi... |
OMIM:610828 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis |
OMIM:619951 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Cobblestone-like hype... |
ORPHA:90186 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Peripheral pulmonary vesse... |
OMIM:273395 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Urinary bladder sphinc... |
ORPHA:79408 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Small for gestational age, ... |
OMIM:127000 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... |
OMIM:232240 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:85293 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab... |
ORPHA:565 |
H Syndrome |
|
Varicose veins, Abnormal cardiovascular system physiology, Facial telangiectasia |
ORPHA:168569 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e... |
OMIM:154500 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abnormal circulating copper c... |
ORPHA:521411 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral refl... |
OMIM:107480 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyo... |
OMIM:300952 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis |
OMIM:618493 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Progeroid facial appearance, Polyhydramn... |
OMIM:614098 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis |
OMIM:300966 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinodactyly |
OMIM:620330 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Keratitis, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypop... |
ORPHA:2334 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum, Skin ulcer |
ORPHA:493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microphthalmia, Elevated circulating creatine kinase concentration, Buphthalmos |
OMIM:613150 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Upper eyelid entropion, Unilateral renal agenesis, Postaxia... |
ORPHA:457284 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Retinal coloboma |
ORPHA:500095 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po... |
OMIM:616959 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... |
OMIM:610829 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Short stature, Tapered finger |
OMIM:617330 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Osteolysis, Bone cyst |
ORPHA:2396 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:500055 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Pulmonary... |
ORPHA:163956 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Periodontitis, Abnormal fallopian tu... |
ORPHA:722 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou... |
ORPHA:83628 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Horner syndrome, Con... |
OMIM:606519 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:158350 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Abnormal heart morpholo... |
ORPHA:42775 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Short stature, Brachydactyly, Wid... |
ORPHA:1587 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear... |
OMIM:615919 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Nasolacrimal duct obstruction, Retinal coloboma, Macular hypoplasia, Chorioretina... |
OMIM:612109 |
Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s... |
ORPHA:800 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Poor wound healing, Pneumothorax, Erythema, Osteolytic defects of the p... |
OMIM:618175 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Cryptorchidism, Myelomeningocele, Ambiguous genitalia, female, Epispad... |
OMIM:258040 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid uterus, Sparse eyebrow, A... |
ORPHA:1521 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Varicose veins, Syncope,... |
ORPHA:358 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
Weaver Syndrome |
|
Kyphosis, Scoliosis |
OMIM:277590 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Subvalvular aortic stenosis,... |
ORPHA:47159 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral b... |
OMIM:208400 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:398069 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Scoliosis |
OMIM:618050 |
Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Prader-Willi Syndrome |
|
Kyphosis, Scoliosis |
OMIM:176270 |
Pontocerebellar Hypoplasia Type 7 |
|
Epicanthus, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Upslanted palpebral fis... |
ORPHA:284339 |
Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis |
OMIM:601104 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins |
OMIM:314300 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Buphthalmos, Coloboma, Hypoplasia of the reti... |
OMIM:253280 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Single umbilical artery, Aplasia of the vagina, Pulm... |
OMIM:271520 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis |
OMIM:619708 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Kyphosis, Scoliosis, Short neck |
OMIM:619194 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation |
OMIM:612918 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, Arterial diss... |
ORPHA:285 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
Holoprosencephaly 1 |
|
Short stature, Adrenal hypoplasia, Micropenis, Aplasia of the nose, Microphthalmia, Cyclopia, Dia... |
OMIM:236100 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Lymphatic Malformation 7 |
|
Varicose veins |
OMIM:617300 |
Smith-Lemli-Opitz Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:818 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... |
ORPHA:666 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato... |
ORPHA:391665 |
Lymphatic Malformation 6 |
|
Varicose veins, Intestinal lymphangiectasia |
OMIM:616843 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Zttk Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis |
OMIM:617140 |
Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma, Aplasia of the nose |
ORPHA:1134 |
Mucolipidosis Type Ii |
|
Kyphosis |
ORPHA:576 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Neurofibromatosis Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:636 |
17Q11 Microdeletion Syndrome |
|
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis |
ORPHA:97685 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hemolytic anemia, Elevated circulating creatine kinase co... |
OMIM:175780 |
Sotos Syndrome |
|
Kyphosis, Abnormal vertebral morphology, Scoliosis, Sacrococcygeal teratoma |
ORPHA:821 |
Primrose Syndrome |
|
Kyphosis, Posterior scalloping of vertebral bodies, Irregular vertebral endplates |
OMIM:259050 |