Ulnar Hypoplasia |
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Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Syndactyly Type 4 |
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Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
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Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
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Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Langer Mesomelic Dysplasia |
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Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Ulnar Hypoplasia With Mental Retardation |
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Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Arms, Malformation Of |
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Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Brachydactyly Type A1 |
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Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Leri-Weill Dyschondrosteosis |
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Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Atelosteogenesis, Type Iii |
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Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Malar flatteni... |
OMIM:108721 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... |
OMIM:608940 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
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Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... |
ORPHA:2249 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
Mental Retardation Syndrome, Mietens-Weber Type |
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Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Acrocapitofemoral Dysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Upper Limb Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... |
ORPHA:93356 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Acromesomelic Dysplasia, Grebe Type |
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Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Otospondylomegaepiphyseal Dysplasia |
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Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphysis... |
ORPHA:1427 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Weismann-Netter Syndrome |
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Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Ulna And Fibula, Hypoplasia Of |
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Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Weismann-Netter Syndrome |
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Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Metaphyseal Anadysplasia |
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Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Femur-Fibula-Ulna Complex |
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Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
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Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Cleft pal... |
OMIM:601560 |
Metaphyseal Anadysplasia 2 |
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Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... |
OMIM:613073 |
Acheiropody |
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Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... |
OMIM:250215 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Hhhh Syndrome |
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Hemiatrophy |
OMIM:306960 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Kniest Dysplasia |
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Respiratory distress, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, Rhizomelia, Du... |
OMIM:156550 |
Shox-Related Short Stature |
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Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum... |
ORPHA:314795 |
Osteogenesis Imperfecta, Type Iii |
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Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... |
OMIM:259420 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... |
OMIM:227270 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... |
OMIM:156500 |
Dyschondrosteosis And Nephritis |
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Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Omodysplasia 2 |
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Dislocated radial head, Depressed nasal bridge, Short 1st metacarpal, Short humerus, Long philtru... |
OMIM:164745 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... |
OMIM:223800 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Flexion contracture, Depressed nasal bridge, Osteopenia, Micrognathia, Short humerus... |
OMIM:222765 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Short neck, Mi... |
OMIM:256050 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... |
OMIM:245160 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... |
ORPHA:3035 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Fibular Hemimelia |
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Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Robin Sequence-Oligodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... |
ORPHA:3104 |
Acrodysostosis |
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Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Astley-Kendall Dysplasia |
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Micromelia, Epiphyseal stippling |
ORPHA:85175 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Irregular iliac crest, Abnormal metaphysis... |
ORPHA:93316 |
Geroderma Osteodysplasticum |
|
Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... |
OMIM:231070 |
Mesomelic Limb Shortening And Bowing |
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Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... |
ORPHA:166002 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... |
OMIM:108720 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... |
OMIM:156510 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Short ne... |
ORPHA:93315 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Asthma, Swan neck-... |
OMIM:616716 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Platyspondyly, Rudimentary fibu... |
OMIM:304120 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Respiratory insufficiency, Platyspond... |
OMIM:166210 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin vermilion border, Camptodactyly of... |
ORPHA:2631 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... |
ORPHA:166016 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Tibial bowing, Radial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Thin r... |
OMIM:610915 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Recurrent aspiration pneumonia, ... |
OMIM:300484 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... |
OMIM:615162 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... |
ORPHA:357175 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... |
OMIM:211350 |
Nemaline Myopathy 9 |
|
High palate, Cleft palate, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex cong... |
OMIM:615731 |
Autosomal Dominant Omodysplasia |
|
Malar flattening, Short 1st metacarpal, Depressed nasal bridge, Micrognathia, Short humerus, Long... |
ORPHA:93328 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... |
ORPHA:140 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... |
OMIM:236640 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... |
OMIM:208081 |
Hypochondroplasia |
|
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis,... |
OMIM:146000 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... |
OMIM:171480 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Ovoid v... |
OMIM:601559 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Flexion contracture, Mala... |
OMIM:602471 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla... |
OMIM:601561 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... |
OMIM:600081 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... |
OMIM:156530 |
Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Joint stiffness, Abnormal morphology of ulna, Abnormality of the dent... |
ORPHA:1350 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Abnormality of the nares, Radial club hand, Abnormal nasal m... |
ORPHA:2878 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Bowing of the legs, Delay... |
OMIM:264700 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Polydactyly, Abnor... |
ORPHA:294975 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Hypoplasia of the radius, Depressed nasal bridge, Cutis marmorata, Hypoplasia of the ulna,... |
OMIM:602613 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... |
OMIM:618395 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Mietens Syndrome |
|
Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... |
OMIM:206920 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... |
ORPHA:1106 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... |
OMIM:186500 |
Acrorenal Syndrome |
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Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... |
ORPHA:971 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
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Hypoplasia of the radius, Micromelia, Nonopposable triphalangeal thumb |
ORPHA:2252 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Cleft upper lip, High palate, Hand oligodactyly, Absent thumb, Hy... |
OMIM:602418 |
Cartilage-Hair Hypoplasia |
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Abnormally ossified vertebrae, Short neck, Micromelia, Rhizomelia, Abnormal epiphysis morphology,... |
ORPHA:175 |
Autosomal Recessive Hypophosphatemic Rickets |
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Spinal canal stenosis, Coxa vara, Tibial bowing, Distal femoral bowing, Malabsorption, Rickets of... |
ORPHA:289176 |
Pallister W Syndrome |
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Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depre... |
OMIM:311450 |
Vitamin D-Dependent Rickets, Type 2A |
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Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Bowing of the legs, Delay... |
OMIM:277440 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Ankle clonus, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Joint laxity, Ton... |
OMIM:600561 |
Ritscher-Schinzel Syndrome 3 |
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Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, High palate, Respiratory distress, Apnea, Cleft palate, Femor... |
OMIM:114290 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... |
OMIM:184255 |
Cenani-Lenz Syndrome |
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Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
Radial Hemimelia |
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Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Acromesomelic Dysplasia, Maroteaux Type |
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Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Isolated Congenital Hypoglossia/Aglossia |
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Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Kyphomelic Dysplasia |
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Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... |
ORPHA:1801 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... |
ORPHA:251028 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
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Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... |
ORPHA:2491 |
Camptomelic Syndrome, Long-Limb Type |
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Micromelia, Bowing of the long bones |
OMIM:211990 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Lethal Recessive Chondrodysplasia |
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Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... |
ORPHA:1423 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... |
OMIM:618728 |
Hypochondroplasia |
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Spinal canal stenosis, Abnormality of femur morphology, Short toe, Sleep apnea, Osteoarthritis, S... |
ORPHA:429 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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High palate, Talipes equinovarus, Retrognathia, Micrognathia, Hip dysplasia, Neonatal death, Sing... |
OMIM:611890 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Finger syndactyly, Depressed nasal bridge, Micrognathia, Aplasia of the proximal phalanges of the... |
ORPHA:2256 |
Van Den Ende-Gupta Syndrome |
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High palate, Cleft palate, Craniosynostosis, Depressed nasal bridge, Femoral bowing, Tapered fing... |
OMIM:600920 |
Odontochondrodysplasia 1 |
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Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
Congenital Disorder Of Glycosylation, Type Ig |
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Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Spondylometaphyseal Dysplasia, A4 Type |
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Coxa vara, Short palm, Micromelia, Limitation of joint mobility |
ORPHA:168555 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... |
OMIM:241530 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology, Abnormality of ... |
ORPHA:1837 |
Ophthalmomandibulomelic Dysplasia |
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Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Mueller-Weiss Syndrome |
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Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
Diamond-Blackfan Anemia 11 |
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Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
W Syndrome |
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Radial bowing, Broad nasal tip, Depressed nasal bridge, Camptodactyly, Hypoplasia of the ulna, Br... |
ORPHA:2804 |
Diastrophic Dysplasia |
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Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Short l... |
OMIM:222600 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Maxillonasal Dysplasia |
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Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... |
ORPHA:1248 |
Blount Disease |
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Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Delayed epiphyseal ossification, Narro... |
OMIM:602557 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short ti... |
OMIM:201170 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
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Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Symbrachydactyly Of Hands And Feet |
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Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gin... |
ORPHA:1832 |
Endove Syndrome, Limb-Only Type |
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Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Metatropic Dysplasia |
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Kyphosis, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Halberd-shaped pelvis... |
ORPHA:2635 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Limitation of joint mobility, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... |
ORPHA:93351 |
Melnick-Needles Syndrome |
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Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... |
OMIM:309350 |
Odontochondrodysplasia |
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Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondy... |
ORPHA:166272 |
Ivic Syndrome |
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Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... |
ORPHA:1277 |
Achondroplasia |
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Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Mala... |
OMIM:100800 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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High palate, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, ... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
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Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Mesomelic Dysplasia, Nievergelt Type |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Postaxial Acrofacial Dysostosis |
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Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... |
ORPHA:246 |
Ghosal Hematodiaphyseal Dysplasia |
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Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislo... |
OMIM:618291 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... |
OMIM:612350 |
Hyperekplexia 4 |
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High palate, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal arth... |
OMIM:618011 |
Pyle Disease |
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Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Acro-Renal-Mandibular Syndrome |
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High palate, Aplasia/Hypoplasia of the tongue, Split foot, Abnormality of the sense of smell, Hyp... |
ORPHA:958 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, De... |
OMIM:618961 |
Gnathodiaphyseal Dysplasia |
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Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... |
ORPHA:53697 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Sclerosis of skull base, Hyperextensibility of the finger joints, Depressed nasa... |
OMIM:313420 |
Greenberg Dysplasia |
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Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
Bullous Dystrophy, Hereditary Macular Type |
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Death in childhood, Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
Immunodeficiency 43 |
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Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Tibial Hemimelia |
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Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
Multiple Metaphyseal Dysplasia |
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Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
3M Syndrome |
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Bulbous nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Congenital hip disloca... |
ORPHA:2616 |
Orofaciodigital Syndrome Iv |
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High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Micrognat... |
OMIM:258860 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
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Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
Nager Syndrome |
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Joint stiffness, Wide mouth, Cleft palate, Hypoplasia of the radius, Abnormal nasal morphology, M... |
ORPHA:245 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Reduced vital capacity, Limited knee flexion/extension, Shoulder girdle muscle weakness, Respirat... |
ORPHA:266 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... |
OMIM:210720 |
Grant Syndrome |
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Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Atelosteogenesis Type Iii |
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High palate, Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation,... |
ORPHA:56305 |
Familial Anetoderma |
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Lumbar hyperlordosis, High, narrow palate, Generalized joint laxity, Abnormality of tibia morphol... |
ORPHA:228277 |
Osteosclerosis With Ichthyosis And Fractures |
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Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... |
OMIM:617719 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Broad nasal tip, Abnormality of the dentition, Osteolysis, Hypopl... |
ORPHA:2776 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... |
OMIM:300554 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations |
OMIM:253300 |
Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Short tibia, Abnormality of the dentition, Ca... |
OMIM:258865 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Diastrophic Dysplasia |
|
Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... |
ORPHA:628 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, S... |
ORPHA:1505 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... |
ORPHA:2790 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... |
OMIM:269250 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, High palate, Talipes equinovarus, Cleft palate, Camptodactyly of finger, Re... |
OMIM:614399 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... |
ORPHA:453510 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, U-Sh... |
OMIM:609945 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Synostosis o... |
ORPHA:1836 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Aplasia/Hypoplasia of the thumb, Microretrognathia, Abnormal morpholog... |
ORPHA:1307 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... |
ORPHA:2302 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Abnormalit... |
OMIM:251230 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Cleft palate, Hand oligodactyly |
OMIM:172880 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like vertebral bodies, H... |
OMIM:151210 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... |
OMIM:304950 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Omodysplasia 1 |
|
Depressed nasal bridge, Short nose, Rhizomelia, Anterolateral radial head dislocation, Increased ... |
OMIM:258315 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... |
OMIM:616809 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Narrow mouth, Short long bone, Cone-shaped epiphysis, Long phi... |
OMIM:102370 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar cre... |
ORPHA:968 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Depressed nasal bri... |
ORPHA:93329 |
Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ... |
ORPHA:916 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... |
OMIM:268310 |
Thoracomelic Dysplasia |
|
Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow dislocation, A... |
ORPHA:1803 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... |
ORPHA:63446 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, C... |
OMIM:136760 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Increased anterior vertebral height, Proximal humeral metaphyseal irregularity, Coxa vara, Delaye... |
OMIM:183849 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... |
OMIM:250230 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Short nose, H... |
OMIM:218000 |
Radio-Renal Syndrome |
|
Respiratory distress, Convex nasal ridge, Chylothorax, High, narrow palate, Hypoplasia of the rad... |
ORPHA:3015 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Depressed nasal bridge, Broad hal... |
ORPHA:2662 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Short ribs, Hypoplasia of the radius, Depressed nasal bridge, Postaxial pol... |
OMIM:617895 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... |
ORPHA:352540 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Cone-shaped epiphys... |
ORPHA:1240 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... |
ORPHA:1529 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Hypoxemia, Cleft palate, Micrognathia, Cyanosis, Tachypnea, Pulmonary hypoplasia, ... |
ORPHA:2257 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Congenit... |
OMIM:263750 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... |
OMIM:218600 |
Miller-Dieker syndrome (MDS) |
|
Frontal bossing, Midface retrusion, Abnormal heart morphology |
DECIPHER:21 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia, Limb undergrowth |
OMIM:269870 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Hepatoblastoma, Absent glenoid fossa, Short 1st metaca... |
ORPHA:96334 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Bowing of the legs, Limited elbow extension |
ORPHA:156728 |
Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Thin vermil... |
ORPHA:96097 |
Achondroplasia |
|
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... |
ORPHA:15 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Cleft palate, Upper limb undergrowth, Abnormal hand morphology, Arthralgia of the hi... |
ORPHA:93307 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Everted lower l... |
ORPHA:915 |
Cranioectodermal Dysplasia 1 |
|
High palate, Microdontia, Single transverse palmar crease, Sagittal craniosynostosis, Rhizomelia,... |
OMIM:218330 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb |
OMIM:179270 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Blount Disease, Adolescent |
|
Bowing of the legs, Genu varum |
OMIM:259200 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Scoliosis, Neonatal death, Death in adolescence, Camptodactyly, Bowing of t... |
OMIM:619751 |
Cleft Velum |
|
Velopharyngeal insufficiency, Aspiration pneumonia, Hypoplasia of the maxilla, Cleft soft palate,... |
ORPHA:99772 |
Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, Respiratory distress, High palate, Short sternum, Hypoplasia of t... |
ORPHA:3404 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... |
ORPHA:93359 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... |
OMIM:246560 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Prominent deltoid tub... |
OMIM:610319 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Cleft palate, Short long... |
OMIM:215150 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Slender finger, Increased laxity of fingers, Flexion contracture, Adducted thumb, Micrognathia, H... |
ORPHA:75840 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ossification, ... |
ORPHA:93296 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Short philtrum, Upper limb undergro... |
ORPHA:439822 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Depressed nasal bridge, Osteopenia, Abnormality of the dentition, Long philtrum, Ost... |
OMIM:615398 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxi... |
ORPHA:85279 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short toe, Wide anterior fontanel, Gingival hyperkeratosis, Gingival overgrowth, Recurrent mandib... |
OMIM:225410 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cleft palate, Micrognathia, Abnormal form of the vertebral bodie... |
ORPHA:3429 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Tooth agenesis, Microretrognathia, Joint hypermobility, Bruising susceptibil... |
OMIM:616229 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate |
OMIM:216300 |
Dent Disease 1 |
|
Bowing of the legs, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Rec... |
OMIM:300009 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Abnormal ... |
ORPHA:2759 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cleft palate, Micrognathia,... |
ORPHA:576283 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... |
ORPHA:2204 |
Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, Kyphosis, Long hallux, High palate, Gingival overgrowth, Flexion ... |
OMIM:618658 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:613869 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Mohr Syndrome |
|
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Lobulated tongue, Tongue nodu... |
OMIM:252100 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Jaundice, Short rib... |
OMIM:208500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, G... |
ORPHA:94068 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Cutaneous photosensitivity, Arthrogryposis multi... |
OMIM:616570 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, High palate, Abnormality of the... |
ORPHA:3098 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Depressed nasal bridge, Micrognathia, Micromelia, Postaxial hand polyda... |
OMIM:241800 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, High palate, Narrow mouth, Convex nasal ridge, Short s... |
OMIM:266910 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices |
OMIM:122900 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... |
ORPHA:56304 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... |
ORPHA:1508 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Short neck, Congenital hip dislocation, Down-sloping shoulders, Decrea... |
OMIM:114300 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Sho... |
OMIM:274000 |
Temple Syndrome |
|
High palate, Cleft palate, Flexion contracture, Small hand, Micrognathia, Short philtrum, Scolios... |
OMIM:616222 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Neonatal death, Anisospondyly,... |
OMIM:224410 |
Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... |
OMIM:619334 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic sacrum, Osteoarthritis, Broad femoral neck, Upper l... |
OMIM:271650 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... |
OMIM:608154 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Bulbous nose, Micromelia, Abnormality of the humerus, Ulnar devi... |
ORPHA:2496 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Syndact... |
OMIM:113000 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... |
OMIM:613091 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Anal atresia, Pectora... |
OMIM:607323 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Depressed nasal bridge, Broad hallux phalanx, Long philtrum, Broa... |
ORPHA:261295 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Sti... |
OMIM:276950 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Convex nasal ridge, Increased bone mineral density, Massively thickened long bone... |
ORPHA:1798 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Microretrognathia, Gastroesophageal reflux, Cyanosis, Rect... |
OMIM:619793 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Narrow mouth, Broad long bones, Talipes equinovarus, Miscarriage, Cleft palat... |
ORPHA:1865 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... |
ORPHA:2751 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Respiratory distress, Cone-shaped epiphyses of the phalanges of t... |
OMIM:617102 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth |
OMIM:601016 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ... |
OMIM:215140 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:616081 |
Martsolf Syndrome 1 |
|
High palate, Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Short philtrum,... |
OMIM:212720 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarp... |
ORPHA:93262 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Absent radius, Hypoplasia of the ulna... |
ORPHA:1352 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Malar flatte... |
ORPHA:1388 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of... |
OMIM:170390 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Osteopenia, Micrognathia, Bilateral elbow dis... |
OMIM:166300 |
Lujan-Fryns Syndrome |
|
High palate, Arachnodactyly, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... |
ORPHA:776 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... |
OMIM:224300 |
Codas Syndrome |
|
Anal atresia, Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxi... |
OMIM:600373 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Malar flatten... |
OMIM:300244 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Absent radius, Hypoplasia of the ulna... |
OMIM:600123 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Overhanging nasal tip, ... |
OMIM:619142 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Cleft palate, Depressed na... |
ORPHA:85166 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Polydactyly, Abnormal nasal muc... |
ORPHA:137914 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cleft palate, Platyspondyly, Short neck, Limitation of knee mobility, Ovoid... |
OMIM:183900 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Short middle phal... |
OMIM:101600 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Pursed lips, Platyspondyly, Short neck, Micromelia, Congenital hip dislocation, Ante... |
OMIM:255800 |
Rhizomelic Chondrodysplasia Punctata |
|
Abnormality of the dentition, Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abno... |
ORPHA:177 |
Desbuquois Dysplasia 2 |
|
Cleft palate, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Short ... |
OMIM:615777 |
Neuralgic Amyotrophy |
|
Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocyanosis |
ORPHA:2901 |
Atelosteogenesis Type I |
|
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... |
ORPHA:1190 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Craniosynostosis, Cleft palate, Micrognathia, Micromelia, B... |
ORPHA:2145 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... |
ORPHA:397973 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Flexion contracture, Depressed nasal bridge, Short humerus, Brachydactyly, Microd... |
OMIM:619479 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Osteopenia, Micrognathia, Narrow nose, Delayed eruption of teeth, Brachyda... |
OMIM:601812 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa vara, Joint stiffness, Hiatus hernia, Gastroesophageal reflux, Excessive wrinkled skin, Micr... |
ORPHA:1901 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Cleft palate, Club-shaped proximal femur, Narrow greater sci... |
OMIM:184250 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Hypoplasia of the maxilla, Epiphyseal stippling of toe phalanges, Epiphyseal s... |
ORPHA:79345 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Bulbous nose, Sleep apnea, Depressed nasal bridge, Brachydactyly, Long phil... |
OMIM:617809 |
Alagille Syndrome |
|
Short distal phalanx of finger, Telangiectasia of the skin, Peripheral pulmonary artery stenosis,... |
ORPHA:52 |
Rothmund-Thomson Syndrome |
|
Abnormal dental enamel morphology, Telangiectasia of the skin, Selective tooth agenesis, Supernum... |
ORPHA:2909 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sci... |
ORPHA:168549 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac... |
OMIM:263540 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micrognathia, Micromelia, Long philtrum, Short nose, Short foot, Anteverted ... |
ORPHA:93299 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, 11 pairs of ribs, Micromelia, Single transverse palmar crease, Prolonged neonatal... |
OMIM:210710 |
Fatco Syndrome |
|
Absent hand, Respiratory insufficiency, Abnormality of tibia morphology, Abnormality of fibula mo... |
ORPHA:2492 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia, Craniosynostosis |
OMIM:218550 |
Cohen Syndrome |
|
Convex nasal ridge, Macrodontia of permanent maxillary central incisor, High, narrow palate, Open... |
OMIM:216550 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Ta... |
ORPHA:3309 |
Distal Monosomy 17Q |
|
Narrow mouth, Abnormal hip bone morphology, Small hand, Respiratory insufficiency, Aplasia/Hypopl... |
ORPHA:1597 |
Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abnormally ossifi... |
ORPHA:2167 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure |
OMIM:610127 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Platyspondyly, Short neck, Brachyda... |
OMIM:612813 |
Moebius Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Microdontia, Open mouth, Clinodactyl... |
ORPHA:570 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Brachydactyly, Limb undergrowth, Short long bone |
ORPHA:221054 |
Idiopathic Bronchiectasis |
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Reduced FEV1/FVC ratio, Crackles, Dyspnea, Acute infectious pneumonia, Wheezing, Recurrent lower ... |
ORPHA:60033 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Anal atresia, Tracheoesophageal fistula, Short humerus, Hand polydactyly, Proximal placement of t... |
OMIM:314390 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Abnormality of the dentition, Scoli... |
ORPHA:93160 |
Autosomal Recessive Stickler Syndrome |
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Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Malar flattening, Micrognathia... |
ORPHA:250984 |
Multiple Osteochondromas |
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Abnormality of femur morphology, Hemothorax, Limitation of knee mobility, Abnormal bone structure... |
ORPHA:321 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
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Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Short f... |
OMIM:609325 |
Acrofacial Dysostosis, RodrÃguez Type |
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Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Jeune Syndrome |
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Cone-shaped epiphysis, Respiratory insufficiency, Micromelia, Brachydactyly, Postaxial hand polyd... |
ORPHA:474 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Dyggve-Melchior-Clausen Disease |
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Broad carpal bones, Platyspondyly, Short neck, Hypoplasia of the capital femoral epiphysis, Abnor... |
ORPHA:239 |
Coffin-Lowry Syndrome |
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High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance... |
ORPHA:192 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... |
ORPHA:1952 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Recurrent fractures, Premature loss of teeth, Increased bone mineral density, Osteopenia, Short h... |
OMIM:239000 |
Hall-Riggs Syndrome |
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Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Brachydactyly, Delayed eruption of teeth, ... |
ORPHA:2107 |
Muscular Dystrophy, Congenital, 1B |
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Shoulder girdle muscle weakness, Respiratory failure, Achilles tendon contracture |
OMIM:604801 |
Cerebrocostomandibular Syndrome |
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High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Gl... |
OMIM:117650 |
Achondrogenesis Type 1B |
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Talipes equinovarus, Micrognathia, Micromelia, Long philtrum, Short nose, Short foot, Anteverted ... |
ORPHA:93298 |
Achondrogenesis, Type Ib |
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Malar flattening, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or ... |
OMIM:600972 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
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Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
Immunodeficiency 95 |
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Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Ruvalcaba Syndrome |
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Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Short foot, Short palm,... |
OMIM:180870 |
Osteogenesis Imperfecta, Type X |
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Dentinogenesis imperfecta, Thin ribs, Malar flattening, Generalized joint laxity, Micrognathia, O... |
OMIM:613848 |
Glutamine Deficiency, Congenital |
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Apnea, Flexion contracture, Thin vermilion border, Depressed nasal bridge, Micromelia, Erythema, ... |
OMIM:610015 |
Acrorenal-Mandibular Syndrome |
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High palate, Narrow palate, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly,... |
OMIM:200980 |
Achondrogenesis |
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Micrognathia, Micromelia, Long philtrum, Abnormality of bone mineral density, Short nose, Antever... |
ORPHA:932 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
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Cleft palate, Malar flattening, Small hand, Abnormal hand morphology, Short foot |
OMIM:300261 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, ... |
OMIM:259600 |
Achondrogenesis, Type Ia |
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