Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci... |
OMIM:601382 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Fibular Hemimelia |
|
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... |
ORPHA:93323 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... |
ORPHA:3329 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u... |
OMIM:119100 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge... |
ORPHA:93322 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of... |
OMIM:201170 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... |
ORPHA:70578 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... |
ORPHA:319552 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Acute Lung Injury |
|
Pneumonia, Sepsis, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine ... |
ORPHA:178320 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po... |
OMIM:258860 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Ulnar deviated club hands, Fibular ... |
OMIM:164900 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image f... |
OMIM:119800 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shorten... |
OMIM:268305 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bon... |
OMIM:601559 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... |
ORPHA:356961 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Broad finger, Astigmatism, Optic disc pallor, Abnormality of... |
OMIM:617523 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Pes... |
OMIM:601455 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Rieger anomaly, Senso... |
OMIM:109120 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... |
OMIM:617519 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Equinovarus deformity, Short femoral neck, Flared metaphysis, Shor... |
ORPHA:2502 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... |
ORPHA:158061 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Sensorineural hearing impairment,... |
OMIM:607143 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... |
OMIM:609945 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent Achilles reflex, Pes cavus, Sensorineural hearing impairment, Absent brains... |
ORPHA:1215 |
Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... |
OMIM:600785 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Preaxial f... |
ORPHA:1988 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Low-set, posteriorly rotated ears,... |
ORPHA:3320 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... |
OMIM:616300 |
Omodysplasia 1 |
|
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... |
OMIM:258315 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete... |
ORPHA:2751 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairm... |
OMIM:619260 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis |
ORPHA:85435 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... |
OMIM:618150 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Po... |
OMIM:617925 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Shoulder flexion contracture, Hearing impairment, Ulnar devi... |
OMIM:193700 |
Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... |
ORPHA:96334 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Ectopia pupillae, Recurrent oti... |
OMIM:608940 |
Kyphomelic Dysplasia |
|
Low-set ears, Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, M... |
OMIM:211350 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... |
OMIM:263520 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
Interstitial Cystitis |
|
Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion |
ORPHA:37202 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal auditory evoked potentials, Abnormal conjunctiva morphology, Senso... |
ORPHA:529799 |
Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Low-set ears, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones,... |
OMIM:228520 |
Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia... |
OMIM:108720 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Recurrent otitis media, Micr... |
OMIM:164745 |
Acromelic Frontonasal Dysostosis |
|
Low-set ears, Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly... |
OMIM:603671 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, M... |
ORPHA:958 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... |
ORPHA:79124 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs |
OMIM:114000 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Hearing impairment, Hypoplastic iliac wing, Fibular aplasia, ... |
OMIM:260660 |
Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Short toe, Abnormal foot morphology, Thumb con... |
ORPHA:171929 |
Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Hear... |
OMIM:600383 |
Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
Mend Syndrome |
|
Low-set ears, Cataract, Abnormal auditory evoked potentials, Broad hallux, Overlapping toe, Micro... |
ORPHA:401973 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Pes cavus, Sensorineural hearing impairment, Distal lower li... |
ORPHA:101085 |
Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Pes cavus, EEG abnormality |
ORPHA:206448 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Cockayne Syndrome Type 1 |
|
Cataract, Optic atrophy, Foot joint contracture, Hearing impairment, Abnormality of peripheral ne... |
ORPHA:90321 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, Low-set ears, Hearing impairment, 11 pairs of ribs, Micrognathi... |
ORPHA:140 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
Cockayne Syndrome B |
|
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Square pelvis bone, Hypoplasia o... |
OMIM:133540 |
Acrorenal-Mandibular Syndrome |
|
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary... |
OMIM:200980 |
Occipital Horn Syndrome |
|
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:198 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Pes... |
OMIM:609136 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Cockayne Syndrome A |
|
Cataract, Optic atrophy, Abnormal auditory evoked potentials, Square pelvis bone, Hypoplastic ili... |
OMIM:216400 |
Mogs-Cdg |
|
Optic atrophy, Overlapping fingers, Sensorineural hearing impairment, Absent brainstem auditory r... |
ORPHA:79330 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... |
ORPHA:3144 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... |
OMIM:276820 |
Hydrolethalus Syndrome 1 |
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Low-set ears, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovaru... |
OMIM:236680 |
Acromelic Frontonasal Dysplasia |
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Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia |
ORPHA:1827 |
Campomelic Dysplasia |
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Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Hypoplastic cervical vertebr... |
OMIM:114290 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
Intrahepatic Cholestasis Of Pregnancy |
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Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
Otopalatodigital Syndrome, Type Ii |
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Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... |
OMIM:304120 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased circulating IgG level, Abnormal circulating interleukin concentration, Decreased specif... |
ORPHA:3261 |
Orofaciodigital Syndrome Type 4 |
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Aplasia/Hypoplasia of the tibia, Low-set ears, Absent crus of helix, Microtia, third degree, Fing... |
ORPHA:2753 |
Charge Syndrome |
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Low-set ears, Cataract, Iris coloboma, Bifid femur, Cupped ear, Short thumb, Aplasia of the semic... |
OMIM:214800 |
Osteopathia Striata With Cranial Sclerosis |
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Low-set ears, Conductive hearing impairment, Fibular aplasia, Micrognathia, Overfolded helix, Fib... |
OMIM:300373 |
Aregenerative Anemia |
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Abnormal circulating interleukin concentration |
ORPHA:101096 |
Cranioectodermal Dysplasia 1 |
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Low-set ears, Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviati... |
OMIM:218330 |
Kinsship Syndrome |
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Low-set ears, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated r... |
OMIM:619297 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Cataract, Small hand, Cupped ear, Hearing impairment, Conductive hearing impairment, Hypoplasia o... |
ORPHA:444077 |