Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... |
OMIM:304120 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... |
ORPHA:93307 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... |
OMIM:271700 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
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 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Thin ribs,... |
OMIM:259420 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Short p... |
OMIM:156510 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora... |
OMIM:164900 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Malar flatteni... |
OMIM:108721 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Pectus excavatum, Cleft palate, Hypoplastic pelvis, Rhizom... |
OMIM:156550 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... |
ORPHA:2635 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Respiratory insufficiency, Wormian bo... |
OMIM:166210 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... |
ORPHA:1354 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Pectus carinatum, Premature osteoarthritis, Limb joint co... |
ORPHA:93314 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Multinucleated giant ... |
OMIM:108720 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Wide anterior fontanel, Dentinogenesis imperfe... |
OMIM:610915 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Abnormal rib cage morpholo... |
OMIM:608154 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Flared femoral metaphysis, Sandal g... |
ORPHA:1427 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Kyphomelic Dysplasia |
|
Cleft palate, Femoral bowing, Micromelia, Pterygium, Dumbbell-shaped humerus, Thoracic hypoplasia... |
OMIM:211350 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Upper limb phocomelia, Abnormality of the vertebral column, Syndact... |
ORPHA:294975 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognath... |
OMIM:251230 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi... |
ORPHA:958 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Distal... |
OMIM:210720 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost... |
ORPHA:3268 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... |
OMIM:245160 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent tee... |
OMIM:112350 |
Shox-Related Short Stature |
|
Forearm undergrowth, High palate, Tibial bowing, Micrognathia, Genu valgum, Cubitus valgus, Short... |
ORPHA:314795 |
Atelosteogenesis, Type Ii |
|
Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sandal gap, Pulmonary hypoplasia, Thora... |
OMIM:256050 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... |
OMIM:206920 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... |
OMIM:304950 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Ge... |
OMIM:271640 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... |
OMIM:227270 |
Blount Disease |
|
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Intestinal malrot... |
OMIM:617866 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lu... |
ORPHA:2631 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Brachydactyly, Scoliosi... |
ORPHA:40 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
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 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones |
OMIM:138930 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Pes cavus, Camptodacty... |
OMIM:311450 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Joint stiffness, Arachnodactyly, Scoliosis, Bilateral single transverse palmar creases,... |
ORPHA:1548 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Si... |
OMIM:601559 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... |
ORPHA:2249 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplasia of the radius, Duplic... |
OMIM:268310 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Pectus excavatum, Increased bone mineral density, Massively thickened long bone c... |
ORPHA:1798 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single t... |
ORPHA:915 |
W Syndrome |
|
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... |
ORPHA:2804 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Osteopenia, Micrognathia, Pes cavus, Bilatera... |
OMIM:166300 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Geroderma Osteodysplasticum |
|
Recurrent fractures, Tibial bowing, Periodontitis, Progeroid facial appearance, Malar flattening,... |
OMIM:231070 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Taper... |
OMIM:600920 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Mandibular p... |
OMIM:619636 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal rib morphology, Genera... |
ORPHA:2790 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
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 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ... |
OMIM:184260 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, R... |
ORPHA:2616 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasi... |
ORPHA:168549 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
Campomelic Dysplasia |
|
High palate, Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Cleft palate, Femor... |
OMIM:114290 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, M... |
ORPHA:474 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Open bite, Abnormality of the glenoid fossa, M... |
ORPHA:2097 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
Pycnodysostosis |
|
High palate, Abnormal clavicle morphology, Abnormality of the dentition, Carious teeth, Rhizomeli... |
ORPHA:763 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh... |
ORPHA:2501 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Osteopenia, Micrognathia, Delayed cranial suture closure, Brachydactyly, D... |
OMIM:601812 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Malar flatteni... |
OMIM:171480 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxat... |
OMIM:259600 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Sandal gap, Hypoplasia of ... |
ORPHA:1106 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Polydactyly, Syndactyly, Short tibia |
OMIM:300484 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... |
OMIM:246560 |
Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the ... |
OMIM:252100 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300554 |
Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
Lujan-Fryns Syndrome |
|
High palate, Pectus excavatum, Arachnodactyly, Abnormality of the dentition, Camptodactyly of fin... |
ORPHA:776 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Osteopen... |
ORPHA:251028 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... |
ORPHA:950 |
Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis dissecans, Genu varum |
OMIM:259200 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Pulmon... |
OMIM:200600 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... |
ORPHA:1801 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Hypop... |
OMIM:182212 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... |
OMIM:309350 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnor... |
ORPHA:90653 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... |
OMIM:236640 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Petechiae... |
OMIM:605432 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... |
ORPHA:1307 |
Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ... |
ORPHA:93296 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Barrel-shaped chest, Micromelia, 11 pairs of ribs, Rhizomel... |
OMIM:215140 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m... |
OMIM:601390 |
Immunodeficiency 43 |
|
Bronchiectasis, Radial bowing, Hypoplasia of the ulna, Recurrent respiratory infections |
OMIM:241600 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Joint stiffness, Pectus excavatum, Anomalous pulmonary venous return,... |
ORPHA:392 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Thoracic hypoplasia, Short long bone, Meta... |
OMIM:618019 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Van Maldergem Syndrome 2 |
|
High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m... |
OMIM:615546 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Microdontia, Pectus carina... |
OMIM:224690 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the ulna, Pulmonary hy... |
OMIM:200980 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Shor... |
OMIM:607143 |
Craniometadiaphyseal Dysplasia |
|
High palate, Wide anterior fontanel, Sclerosis of skull base, Malar flattening, Osteopenia, Flare... |
OMIM:269300 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis, Delayed eruption o... |
OMIM:143095 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Obtuse angle of mandible, Wide anterior fontanel, Increased bone mineral density, Ma... |
ORPHA:85184 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Micromelia, Pectus carinatum, Rhizomelia, Abnormal epiphysis morph... |
ORPHA:175 |
Cohen Syndrome |
|
Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Join... |
OMIM:216550 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Abnormal thorax morphology, Mesomelia,... |
OMIM:605274 |
Nager Syndrome |
|
Wide mouth, Joint stiffness, Cleft palate, Hypoplasia of the radius, Micrognathia, Respiratory in... |
ORPHA:245 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... |
OMIM:201000 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... |
ORPHA:93316 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia ... |
ORPHA:1248 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Cone-shaped epiphysis, Short philtrum, Upper limb undergrowth, Broad hallux, Hypop... |
ORPHA:439822 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxi... |
ORPHA:85279 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... |
ORPHA:453510 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb, Radioulnar synosto... |
ORPHA:3258 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Narrow chest, Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnorma... |
ORPHA:163649 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Limb undergrowth, Long ... |
OMIM:619142 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Martsolf Syndrome 1 |
|
High palate, Pectus excavatum, Finger joint hypermobility, Short philtrum, Pectus carinatum, Broa... |
OMIM:212720 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Upper limb undergrowth,... |
ORPHA:93315 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Narrow chest, Wide anterior fontanel, Flexion contracture, Malar flattening, Arachnodactyly, Femo... |
OMIM:207410 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, High, narrow palate, Hand oligoda... |
ORPHA:2879 |
Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300009 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Broad hallux phalanx, Long philtrum, Pectus carinatum, Broad thum... |
ORPHA:261295 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, A... |
ORPHA:1529 |
Mueller-Weiss Syndrome |
|
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Broad finger, Delayed eruption of teeth, Tapered finge... |
ORPHA:192 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Horizontal ribs, Death in infancy, Lateral clavicle hook |
OMIM:617405 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Malabsorption, Pseud... |
ORPHA:289176 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Abnormal rib morphology,... |
ORPHA:93298 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... |
ORPHA:1486 |
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 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Downturned corners of m... |
ORPHA:93267 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Short ri... |
OMIM:613091 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Talipes equinovarus, Micrognathia, Neonatal death, Anisospondyly, Thoracic hypoplasia, Pulmonary ... |
OMIM:224410 |
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 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... |
OMIM:265900 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista... |
ORPHA:2662 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Brachydactyly, Short femoral neck |
OMIM:602152 |
Fibrochondrogenesis 1 |
|
Cleft palate, Rhizomelia, Posterior rib cupping, Dumbbell-shaped long bone, Short long bone, Thor... |
OMIM:228520 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia |
OMIM:228940 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... |
ORPHA:2972 |
Mietens Syndrome |
|
Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Thoracic hypoplasia, Upper limb undergrowth |
OMIM:613124 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Coronal craniosynostosis, Syndactyly, Short middle phalanx of toe, ... |
OMIM:101600 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving ta... |
OMIM:277950 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiphysi... |
OMIM:612350 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Long philtrum, Sandal ga... |
ORPHA:178303 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
High palate, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decrea... |
OMIM:276820 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Recurrent fractures, Pectus excavatum, Barrel-shaped chest, Bowing... |
OMIM:619131 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Micrognathia, Short neck, Micromelia, ... |
ORPHA:93299 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia... |
ORPHA:1505 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Microdontia, Aplasia/Hypoplasia of the radius, Madelung deformity, Uln... |
ORPHA:1765 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizome... |
OMIM:601560 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Long clavicles, Hypoplasi... |
OMIM:602613 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly... |
OMIM:604922 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, 2-3 toe syndactyly, Flexion contracture, Long fingers, Tapered finger, Hypoplasia of... |
OMIM:218000 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Patellar dislocation, Hand clenching, Thoracic hypoplasia, Elbow disl... |
ORPHA:56305 |
Shprintzen-Goldberg Syndrome |
|
Narrow chest, Joint stiffness, Apnea, Pectus excavatum, High, narrow palate, Craniosynostosis, Ar... |
ORPHA:2462 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Osteopen... |
ORPHA:576283 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Talipes equinovarus, Micrognathia, Overlapping fingers, Pul... |
OMIM:616531 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Hypoplasia o... |
OMIM:300106 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Platyspondylic Dysplasia, Torrance Type |
|
Narrow chest, Short distal phalanx of finger, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... |
ORPHA:85166 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Respiratory in... |
ORPHA:436 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation, Recurrent respiratory infect... |
ORPHA:85288 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Ankle flexion contracture, Internally rotated shoulders, Talipes equinovarus, Fl... |
OMIM:617468 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... |
OMIM:617925 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Pectus excavatum, Hypodontia, Cleft palate, Hyperextensibility of the finger joi... |
OMIM:305400 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra... |
ORPHA:93284 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly... |
OMIM:113000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of... |
ORPHA:1350 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micr... |
OMIM:617895 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o... |
ORPHA:2878 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Malar flattening, Generalized joint laxity, Flared met... |
OMIM:100800 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... |
ORPHA:56304 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Pectus excavatum, Malar flattening, Delayed cranial sutu... |
ORPHA:2511 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... |
OMIM:271665 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Craniosynostosis, Premature loss of primary teeth, Rachitic rosary, Carious t... |
OMIM:241510 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Subcutaneous calcification, Radial bowing |
OMIM:617993 |
Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Central sleep apnea, Delayed cranial suture closure, Hallux valgu... |
OMIM:616863 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Prominent sternum, Cone-shaped capital femoral epiphysis, Small epiphyses, Flared il... |
OMIM:300232 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:2484 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Single transve... |
OMIM:201170 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarpal morphology, Hypop... |
ORPHA:93262 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Malar fla... |
OMIM:601561 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, High palate, Talipes calcaneovarus, Pectus excavatum, Talipes equ... |
OMIM:300534 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Cohen Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... |
ORPHA:193 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Dental malocclusion, Narrow mouth, Macrodontia of permanent ma... |
OMIM:257850 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... |
ORPHA:1802 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o... |
ORPHA:2554 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Myhre Syndrome |
|
Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Thin vermilion border, Abnormality... |
ORPHA:2588 |
Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Pectus carinatu... |
OMIM:615777 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Narrow chest, Thin vermilion border, High iliac... |
ORPHA:50814 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
Meier-Gorlin Syndrome 3 |
|
Narrow chest, Coxa vara, Narrow mouth, Talipes equinovarus, Microretrognathia, Tracheomalacia, Sh... |
OMIM:613803 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Tooth agenesis, Microretrognathia, Bruising susceptibility, Mu... |
OMIM:616229 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Prominent metopic ridge, Long philtrum, Irregular femoral epiphysis, Hypoplasia of ... |
OMIM:613805 |
Saethre-Chotzen Syndrome |
|
Sleep apnea, Clinodactyly of the 5th finger, Narrow palate, Cleft palate, Open bite, Proximal rad... |
ORPHA:794 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen... |
OMIM:619795 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Abnormal hand morphology, Abnorm... |
ORPHA:321 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Flexion contracture, Arachnodactyly, Thin vermilion border, Long philtrum, Pectus ca... |
ORPHA:481152 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Kagami-Ogata Syndrome |
|
Flexion contracture, Thin ribs, Retrognathia, Micrognathia, Long clavicles, Long philtrum, Long f... |
OMIM:608149 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... |
OMIM:114300 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... |
ORPHA:352540 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, T... |
ORPHA:93324 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Sclerosis of skull base, Short sternum, Talipes eq... |
OMIM:269150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Short ribs, Preaxial hand polydactyly, Platyspondyly, Brachy... |
OMIM:263520 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... |
OMIM:608156 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Narrow chest, Pectus excavatum, Pectus carinatum, Long foot, Long palm, Hypoplasia o... |
OMIM:300676 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Pectus excavatum, Flexion contracture, Arachnodactyly, Hyperextensibility of the fin... |
OMIM:309520 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the finger joints, Plat... |
OMIM:313420 |
Cleft Velum |
|
Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate |
ORPHA:99772 |
Rare Circulatory System Disease |
|
Abnormality of finger, Abnormal metatarsal morphology, Cyanosis, Decreased finger mobility, Perio... |
ORPHA:98028 |
Neuralgic Amyotrophy |
|
Sprengel anomaly, Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocy... |
ORPHA:2901 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint... |
ORPHA:168555 |
Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, High palate, Long hallux, Gingival overgrowth, Flexion contractur... |
OMIM:618658 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum |
OMIM:618392 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Talipes equinovarus, Apla... |
ORPHA:1988 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Narrow mouth, Pectus excavatum, Malar flattening, Small hand, Barrel-shaped chest, Bro... |
OMIM:271960 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... |
OMIM:184252 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Wormian bones, Upper limb undergrowth, Pathologic fr... |
ORPHA:166277 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Broad ribs... |
OMIM:224300 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Ruvalcaba Syndrome |
|
Narrow chest, Kyphosis, Small hand, Micromelia, Short phalanx of finger, Scoliosis, Limited elbow... |
OMIM:180870 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... |
ORPHA:2319 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, Patellar subluxat... |
ORPHA:2958 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ... |
ORPHA:2409 |
Bruck Syndrome 1 |
|
Kyphosis, Coxa vara, Hip contracture, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Dental m... |
OMIM:101800 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Micrognathia, Slender long bone, Patellar aplasia, Hypoplasia of t... |
OMIM:613804 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Bifid uvula, L... |
OMIM:604841 |
Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Peripheral pulmonary artery stenos... |
ORPHA:52 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Disc-like verte... |
OMIM:151210 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Scapular winging, Distal joint laxity |
OMIM:616471 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Hip contracture, Pectus excavatum, Talipes equinovarus, Pes cavus, Hyporeflexia of lowe... |
OMIM:615290 |
Lethal Congenital Contracture Syndrome 1 |
|
Widening of cervical spinal canal, Micrognathia, Neonatal death, Abnormal thorax morphology, Pulm... |
OMIM:253310 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Short 1st metacarpal... |
ORPHA:798 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Talipes equinovarus, Scoliosis, Hyperlordosis, Pes planus, Proximal lo... |
OMIM:600175 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Micrognathia, Broad phalanx, Broad metatarsal, Prominent metopic ridge |
OMIM:275595 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Osteopetrosi... |
ORPHA:2780 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Cleft palate, Esophageal atresia, Respiratory insufficiency, Microme... |
ORPHA:87 |
Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Camptodactyly of fi... |
ORPHA:2021 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Mandibular... |
OMIM:122860 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla |
OMIM:300266 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati... |
OMIM:610967 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly... |
OMIM:129400 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Calcaneal epiphyseal stippling, Asthma, Abnormal ossification inv... |
ORPHA:79345 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Micrognathia, Micromelia, Brachydactyly, Abnormal rib morphology, Split hand, A... |
ORPHA:2145 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Coronal craniosynostosis, Abnormality of the dentition, Oligodont... |
ORPHA:2095 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Adducted thumb, Short femur, Osteopenia, Flared metaphy... |
OMIM:616897 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr... |
ORPHA:94068 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Cleft palate, Malar flattening, Abnormality of the dentit... |
ORPHA:560 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Pectus excavatum, Ankle clonus, Osteopenia, Scoliosis, Osteoporosis, Hypoplasia of the ulna |
OMIM:615398 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Enlarged joints, Bowing of the legs, Pectus excavatum, Limited elbow extension, Limb undergrowth,... |
ORPHA:156728 |
Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Limb ... |
ORPHA:1803 |
Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ... |
OMIM:200610 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Omodysplasia 1 |
|
Limited knee flexion/extension, Increased fibular diameter, Short tibia, Micrognathia, Short hume... |
OMIM:258315 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Sprengel anomaly, Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand ol... |
ORPHA:1788 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... |
OMIM:122880 |
Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
Kuskokwim Syndrome |
|
Joint stiffness, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abno... |
ORPHA:1149 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... |
OMIM:218600 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Cleft palate, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly |
OMIM:614261 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Micromelia, Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontan... |
OMIM:225410 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Cleft upper lip, Radial bowing, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Abnormal th... |
OMIM:601027 |
Atelosteogenesis Type I |
|
Narrow chest, Talipes equinovarus, Short long bone, Short femur, Abnormal ossification involving ... |
ORPHA:1190 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Temple Syndrome |
|
High palate, Cleft palate, Flexion contracture, Small hand, Micrognathia, Short philtrum, Bifid u... |
OMIM:616222 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Slender finger, Micro... |
ORPHA:2872 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,... |
OMIM:601668 |
Thanatophoric Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Platyspondyly, Micromelia, Brachydactyly, Abnormal ilium... |
ORPHA:2655 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Pes ... |
OMIM:619638 |
Anauxetic Dysplasia 3 |
|
Narrow chest, Wide anterior fontanel, Metaphyseal cupping, Pectus excavatum, Retrognathia, Femora... |
OMIM:618853 |
Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Abnormal rib morphol... |
ORPHA:2167 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... |
OMIM:252605 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Orofaciodigital Syndrome Iv |
|
Pectus excavatum, Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, ... |
OMIM:258860 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm... |
ORPHA:93359 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Osteoporosis, Delayed eruption of teet... |
OMIM:613849 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Wide anterior fontanel, Bowing of the legs, Recurrent fractures, Pectus ... |
OMIM:610682 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, High palate, Wide anterior fontanel, Abnormality of the tongue, C... |
ORPHA:3098 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Narrow mouth, Recurrent fractures, Elbow ankylosis, Cleft palate, ... |
ORPHA:83 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext... |
ORPHA:356961 |
Weill-Marchesani Syndrome 1 |
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Broad metacarpals, Joint stiffness, Narrow palate, Tooth malposition, Broad phalanges of the hand... |
OMIM:277600 |
Postaxial Acrofacial Dysostosis |
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Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ulna, Finger s... |
ORPHA:246 |
Osteogenesis Imperfecta, Type Xviii |
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Recurrent fractures, Thin ribs, Femoral bowing, Abnormality of the dentition, Micrognathia, Wormi... |
OMIM:617952 |
Otopalatodigital Syndrome, Type I |
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Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure o... |
OMIM:311300 |
Scheuermann Disease |
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Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Mosaic Trisomy 14 |
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High palate, Wide mouth, Ectopic anus, Narrow chest, Cleft palate, Micrognathia, Camptodactyly of... |
ORPHA:1703 |
Brachydactyly Type C |
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Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Duane-Radial Ray Syndrome |
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Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Short humeru... |
OMIM:607323 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... |
OMIM:236500 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Recurre... |
OMIM:608681 |
Postaxial Acrofacial Dysostosis |
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Pectus excavatum, Hypoplasia of the radius, Supernumerary vertebrae, Micrognathia, Congenital hip... |
OMIM:263750 |
Achondroplasia |
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Rhizomelia, Thoracic hypoplasia, Short long bone, Narrow greater sciatic notch, Hip joint hypermo... |
ORPHA:15 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation |
OMIM:300434 |
Distal Xq28 Microduplication Syndrome |
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High palate, Asthma, Short lingual frenulum, Hypoplasia of the maxilla, Clinodactyly, Metatarsus ... |
ORPHA:293939 |
Mucopolysaccharidosis Type 4 |
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Wide mouth, Joint dislocation, Reduced bone mineral density, Abnormality of the dentition, Grayis... |
ORPHA:582 |
Eiken Syndrome |
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Short philtrum, Broad ribs, Multiple unerupted teeth, Thick lower lip vermilion, Long hallux, Eru... |
OMIM:600002 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... |
OMIM:614078 |
Mesomelia-Synostoses Syndrome |
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Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... |
ORPHA:2496 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Narrow chest, Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Pect... |
OMIM:263540 |
Mesomelic Dysplasia, Nievergelt Type |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... |
OMIM:602196 |
Mucopolysaccharidosis, Type Ix |
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Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... |
OMIM:601492 |
Mental Retardation, X-Linked 82 |
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Kyphosis, Scoliosis |
OMIM:300518 |
Brachymesomelia-Renal Syndrome |
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Hypoplasia of the radius, Micrognathia, Cutis marmorata, Single transverse palmar crease, Mesomel... |
OMIM:113470 |
Renal Dysplasia-Limb Defects Syndrome |
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Aplasia of the ulna, Short sternum, Talipes equinovarus, Thin ribs, Short ribs, Hypoplasia of the... |
OMIM:266910 |
Osteogenesis Imperfecta, Type Xiii |
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Dislocated radial head, Increased bone mineral density, Arachnodactyly, Thin vermilion border, Lo... |
OMIM:614856 |
Tetrasomy 5P |
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High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equ... |
ORPHA:3309 |
Cleft Lip/Palate |
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Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Kyphosis, Pectus excavatum, Scoliosis, Tapered finger, Pectus carinatum, Large hands |
ORPHA:276630 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Short long bone, Death in adolescence, Neonatal death, Camptodactyly, Bowin... |
OMIM:619751 |
Langer Mesomelic Dysplasia |
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High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short fem... |
ORPHA:2632 |
Cerebrofacioarticular Syndrome |
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Narrow mouth, Talipes equinovarus, Tracheomalacia, Osteopenia, Micrognathia, Syndactyly, Camptoda... |
ORPHA:314679 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Narrow mouth, Malar flattening, Prominence of the premaxilla, Abnormality of fontanelles, Congeni... |
ORPHA:2412 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital... |
OMIM:618291 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... |
ORPHA:2502 |
Craniosynostosis 2 |
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Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... |
OMIM:604757 |
Laurin-Sandrow Syndrome |
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Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Radial club hand, Micrognathia, Brachydactyly, Broad thumb, Abnormal palate morphology, Short met... |
ORPHA:1278 |
Weill-Marchesani Syndrome 2 |
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Broad metacarpals, High palate, Joint stiffness, Narrow palate, Tooth malposition, Broad phalange... |
OMIM:608328 |
Frontometaphyseal Dysplasia 1 |
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High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
Phaver Syndrome |
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Joint stiffness, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal for... |
ORPHA:2876 |
Schneckenbecken Dysplasia |
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Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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High palate, Anal atresia, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, ... |
ORPHA:2863 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hypoplasia of the maxilla, Cleft u... |
OMIM:213980 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Clinodactyly of the 5th finger, Syndactyly, Amelia, Pulmonary hypoplasia, Decreased skull ossific... |
OMIM:601163 |
Aphalangy With Hemivertebrae |
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Aplasia of the phalanges of the toes, Hemivertebrae, Pulmonary hypoplasia, Aphalangy of hands and... |
OMIM:207620 |
Progressive Pseudorheumatoid Dysplasia |
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Coxa vara, Kyphoscoliosis, Joint stiffness, Enlarged metacarpophalangeal joints, Joint contractur... |
OMIM:208230 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Delayed cranial suture clo... |
ORPHA:1832 |
Fetal Akinesia Deformation Sequence 4 |
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Kyphosis, Flexion contracture, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex ... |
OMIM:618393 |
Spondylospinal Thoracic Dysostosis |
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Micrognathia, Pulmonary hypoplasia, Short thorax, Arthrogryposis multiplex congenita |
OMIM:601809 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Short distal phalanx of finger, Short toe, Joint dislocation, Hypodontia, High, narrow palate, Gl... |
ORPHA:3201 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Kyphosis, Pes cavus, Scoliosis |
OMIM:617087 |
Familial Scheuermann Disease |
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Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Crouzon Syndrome |
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Respiratory insufficiency, Multiple suture craniosynostosis, Narrow palate, Hypoplasia of the max... |
ORPHA:207 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Branchioskeletogenital Syndrome |
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Premature loss of teeth, Pectus excavatum, Craniosynostosis, Thin vermilion border, Abnormality o... |
ORPHA:1299 |
Fibrous Dysplasia Of Bone |
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Abnormality of femur morphology, Abnormal clavicle morphology, Abnormality of the humerus, Thin b... |
ORPHA:249 |
Pycnodysostosis |
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Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Microgna... |
OMIM:265800 |
Thanatophoric Dysplasia, Type Ii |
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Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Distal Monosomy 17Q |
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Narrow mouth, Abnormal hip bone morphology, Small hand, Respiratory insufficiency, Aplasia/Hypopl... |
ORPHA:1597 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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High palate, Flushing, Pectus excavatum, Long clavicles, Osteopenia, Erythema, Osteoporosis, Worm... |
OMIM:259100 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Accessory oral frenulum, Cleft palate, Malar flattening, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:79113 |
Cleft Palate, Deafness, And Oligodontia |
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No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate |
OMIM:216300 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... |
OMIM:602418 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... |
ORPHA:73230 |
Osteofibrous Dysplasia, Susceptibility To |
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Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Acro-Renal-Ocular Syndrome |
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Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... |
ORPHA:959 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Myopathic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq... |
ORPHA:536516 |
Chromosome 16Q22 Deletion Syndrome |
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High palate, Narrow chest, Wide anterior fontanel, Micrognathia, Prominent metopic ridge, Wormian... |
OMIM:614541 |
Bruck Syndrome 2 |
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Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Wormian bones, Pectus carin... |
OMIM:609220 |
Renpenning Syndrome |
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Sprengel anomaly, Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Joint stiffness, Hi... |
ORPHA:3242 |
Cutis Laxa, Autosomal Recessive, Type Iib |
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High palate, Pectus excavatum, Malar flattening, Bruising susceptibility, Excessive wrinkled skin... |
OMIM:612940 |
Acrorenal Syndrome |
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Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... |
ORPHA:971 |
Thoracolaryngopelvic Dysplasia |
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Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Anodontia, Short toe, Short phalanx of finger, Hypoplasia of the maxilla, Short metatarsal, Short... |