Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Neonatal death, Fibular h... |
OMIM:601376 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Cleft palate, Undulate clavicles, Short metatarsal, Malar flattenin... |
OMIM:304120 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing... |
OMIM:600081 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... |
ORPHA:93307 |
Atelosteogenesis, Type Iii |
|
Knee dislocation, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Micrognathia, ... |
OMIM:108721 |
Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Osteogenesis Imperfecta, Type Iii |
|
Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin ribs, Pulmonary arterial hype... |
OMIM:259420 |
Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of teeth, Femoral ... |
OMIM:264700 |
Osebold-Remondini Syndrome |
|
Abnormality of the vertebral column, Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Brachydactyly Type A1 |
|
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... |
ORPHA:93388 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... |
OMIM:277440 |
Atelosteogenesis, Type I |
|
Cleft palate, Distal tapering femur, Talipes equinovarus, Midface retrusion, Short metatarsal, Ne... |
OMIM:108720 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Thin vermil... |
OMIM:156510 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing... |
OMIM:602111 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Metatropic Dysplasia |
|
Long thorax, Aplasia/Hypoplasia of the lungs, Abnormal intervertebral disk morphology, Abnormal f... |
ORPHA:2635 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... |
ORPHA:2141 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Tibial bowing, Broad long bones, Respiratory insufficiency, Thin ribs, Large... |
OMIM:166210 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Genu varum, Short greater sciatic notch, Short middle phalanx of finge... |
ORPHA:93314 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... |
OMIM:118651 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebra... |
ORPHA:1427 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Apnea, Abnormal dental ena... |
OMIM:601559 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... |
ORPHA:1354 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Irregular vertebral endplates, Tapered finger, Metaphyseal irregular... |
OMIM:618395 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... |
OMIM:223800 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Long thorax, Progeroid facial appearance, Cubitus valgus, Disharmonious carpal bone, Genu valgum,... |
OMIM:608154 |
Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Osteolytic defects of the middle p... |
OMIM:259610 |
Kyphomelic Dysplasia |
|
Cleft palate, Talipes equinovarus, Short humerus, Femoral bowing, Pterygium, Short femur, Undulat... |
OMIM:211350 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... |
OMIM:608940 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... |
ORPHA:3035 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Polydactyly, Stillbirth, Abnormal thorax morphology, Syndact... |
ORPHA:294975 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Fibular hyp... |
OMIM:164900 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... |
OMIM:614188 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Mic... |
OMIM:210720 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula, Micrognathia, Hypoplastic scapul... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Thin ribs, Multiple prenatal fractures, Type 1 collagen overmodific... |
OMIM:610915 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Rickets, Enlargement of the wrists, Delayed eruption of teeth, Femoral bowing, Osteom... |
ORPHA:289157 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Anterior tibial bowi... |
OMIM:112350 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Absent radius, Narr... |
OMIM:251230 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Cleft palate, Talipes equinovarus, Camptodactyl... |
OMIM:206920 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Metatarsal osteolysis, Micrognathia, Ulnar deviation of the hand, Ankle swelling,... |
OMIM:166300 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Thoracic hypoplasia, Microgn... |
OMIM:617866 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... |
ORPHA:1972 |
Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Malar flattening, Joint contracture of the hand... |
OMIM:600920 |
Ulnar Hypoplasia |
|
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... |
OMIM:191440 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... |
ORPHA:2098 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... |
OMIM:249710 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Increased intervertebral space, Short greater sciatic notch, Talipes equinovaru... |
OMIM:256050 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... |
OMIM:307800 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, High palate, Lower limb undergrowth, Cubitus valgus, Genu valgum, Sh... |
ORPHA:314795 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Abnormal palate morph... |
ORPHA:1540 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... |
ORPHA:3268 |
Pycnodysostosis |
|
Carious teeth, Hypodontia, Delayed eruption of permanent teeth, Micrognathia, Osteolytic defects ... |
OMIM:265800 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Midface retrusion, Short distal phalanx of finger, Abnormality of the dentition, Hypoplasia of th... |
ORPHA:2776 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... |
OMIM:304950 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Micrognathia, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... |
ORPHA:166016 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Long upper lip, Epiphyseal dysplasia, Pes planu... |
OMIM:271640 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... |
OMIM:114290 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Neonatal death, Fibular hypoplasia, Short 5th finger, Hypoplasia of the ra... |
OMIM:227270 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, Tibial bowing, High palate, Pectus carinatum, Deep philtrum, Pursed lips, Narrow ... |
OMIM:245160 |
Angioosteohypotrophic Syndrome |
|
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... |
ORPHA:75508 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal palate morphology, Pectus excavatum, Midface retrusion, Brachycephaly, Ab... |
ORPHA:1798 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Osteochondrosis, Abnormality of the proximal tibial epiph... |
ORPHA:2768 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, ... |
OMIM:249600 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... |
OMIM:609052 |
Pallister W Syndrome |
|
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Agenesis of maxillary central in... |
OMIM:311450 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Brachyceph... |
ORPHA:2097 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metacarpal morphology, Abnormal lung lobation, Abnormality of epiphysis morphology, Bowi... |
ORPHA:2631 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone ... |
ORPHA:2790 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus |
OMIM:276821 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
Grant Syndrome |
|
Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones |
OMIM:138930 |
Geroderma Osteodysplasticum |
|
Tibial bowing, Progeroid facial appearance, Mandibular prognathia, Increased susceptibility to fr... |
OMIM:231070 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... |
ORPHA:2249 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Midface retrusion, Thin vermilion border, Wormian bones, Delayed eruption of teeth,... |
OMIM:601812 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
Parastremmatic Dwarfism |
|
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis |
OMIM:168400 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Pectus carinatum, Arachnodactyly, Kyphosis, Bilateral single tra... |
ORPHA:1548 |
Greenberg Dysplasia |
|
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple p... |
OMIM:215140 |
Aarskog-Scott Syndrome |
|
Cleft palate, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptoda... |
ORPHA:915 |
Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... |
ORPHA:140 |
W Syndrome |
|
Metatarsus adductus, Radial bowing, Agenesis of maxillary central incisor, Cubitus valgus, Pes pl... |
ORPHA:2804 |
Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
Acrodysostosis |
|
Abnormality of the ulna, Cone-shaped epiphysis, Open bite, Epiphyseal stippling, Mandibular progn... |
ORPHA:950 |
Pycnodysostosis |
|
Carious teeth, Midface retrusion, Obtuse angle of mandible, Increased bone mineral density, Hypop... |
ORPHA:763 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... |
ORPHA:363417 |
Holt-Oram Syndrome |
|
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Abnormal vertebral morphology... |
OMIM:142900 |
Marshall Syndrome |
|
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Irregular distal femora... |
OMIM:154780 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... |
OMIM:612447 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Pes planus, Delayed eruption of teeth, Protrusio acetabuli, H... |
OMIM:259600 |
Lujan-Fryns Syndrome |
|
Pectus excavatum, High palate, Micrognathia, Short philtrum, Brachycephaly, Arachnodactyly, Brach... |
ORPHA:776 |
3M Syndrome |
|
Short thorax, Hypoplastic pelvis, Increased vertebral height, Rocker bottom foot, Congenital hip ... |
ORPHA:2616 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormality of the knee, Prominent calc... |
ORPHA:251028 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Odontochondrodysplasia 1 |
|
Death in infancy, Genu varum, Genu recurvatum, Recurrent respiratory infections, Short long bone,... |
OMIM:184260 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Horizontal ribs, Death in infancy, Early ossification of capital femoral epi... |
OMIM:208500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvat... |
OMIM:182212 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Abnormal sternum morpholo... |
ORPHA:474 |
Microphthalmia With Limb Anomalies |
|
Cleft palate, Death in infancy, Talipes equinovarus, Finger syndactyly, Synostosis of joints, Hyp... |
ORPHA:1106 |
Acromesomelic Dysplasia 1 |
|
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Broad finger, Short ... |
OMIM:602875 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Radial bowing, Madelung deformity |
DECIPHER:58 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Genu varum, Lateral clavicle hook, Midface retrusion, Phocomelia, Aplasia/Hypopla... |
OMIM:171480 |
Boomerang Dysplasia |
|
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Aplasia/Hypo... |
ORPHA:1263 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis mor... |
ORPHA:2501 |
Hip Dysplasia, Beukes Type |
|
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... |
ORPHA:2114 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, High palate, Thin bony cor... |
ORPHA:85184 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Thin ... |
OMIM:170390 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... |
OMIM:300554 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Recurrent aspiration pneumonia, Polydactyly, Short tibia |
OMIM:300484 |
Split-Hand/Foot Malformation 3 |
|
Cleft palate, High palate, Split hand, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Mi... |
OMIM:246560 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Abnormal dental enamel ... |
ORPHA:439822 |
Mohr Syndrome |
|
Cleft palate, Metaphyseal irregularity, Accessory oral frenulum, Malar flattening, Syndactyly, Hy... |
OMIM:252100 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Pectus cari... |
ORPHA:93351 |
Maxillonasal Dysplasia |
|
Cleft palate, Microdontia, Open bite, Midface retrusion, Mandibular prognathia, Short distal phal... |
ORPHA:1248 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morph... |
ORPHA:93267 |
Blount Disease, Adolescent |
|
Osteochondritis Dissecans, Genu varum, Bowing of the legs |
OMIM:259200 |
Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... |
ORPHA:1801 |
Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs |
OMIM:613073 |
Congenital Disorder Of Glycosylation, Type Ig |
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Butterfly vertebrae, Short femur, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the ... |
OMIM:607143 |
Arthrogryposis, Distal, Type 1C |
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Shoulder flexion contracture, Cleft palate, Hip contracture, Talipes equinovarus, Rocker bottom f... |
OMIM:619110 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Cleft palate, Anterior plagiocephaly, Abnormality of cranial sutures, Slender finger, Increased b... |
ORPHA:163649 |
Eiken Syndrome |
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Limited elbow flexion, Metaphyseal irregularity, Cubitus valgus, Epiphyseal dysplasia, Absence of... |
ORPHA:79106 |
Immunodeficiency 43 |
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Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Bronchiectasis |
OMIM:241600 |
Hydrocephalus With Associated Malformations |
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Short lower limbs, Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth,... |
OMIM:236640 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Melnick-Needles Syndrome |
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Cleft palate, Talipes equinovarus, Pes planus, Delayed eruption of teeth, Obtuse angle of mandibl... |
OMIM:309350 |
Stickler Syndrome Type 1 |
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Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Joint hyperflexibility, Hypopla... |
ORPHA:90653 |
Van Maldergem Syndrome 1 |
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Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... |
OMIM:601390 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Rudimentary fibula, Elbow flexion c... |
OMIM:200980 |
Craniometadiaphyseal Dysplasia |
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Carious teeth, Genu varum, Broad long bones, High palate, Microdontia, Mandibular prognathia, Cub... |
OMIM:269300 |
Pseudoachondroplasia |
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Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Acromesomelic Dysplasia 3 |
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Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Arms, Malformation Of |
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Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Limited pronation/supination of forearm, Radial bowing, Petechiae, Ulnar bowing, Hip dislocation,... |
OMIM:605432 |
Van Maldergem Syndrome 2 |
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Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... |
OMIM:615546 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
Mesomelic Dysplasia, Savarirayan Type |
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Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Abnormal thorax morphology, Hi... |
OMIM:605274 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... |
OMIM:609223 |
Frontonasal Dysplasia 1 |
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Hypoplastic frontal sinuses, Joint contracture of the hand, Radial deviation of finger, Median cl... |
OMIM:136760 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Femoral bowing, Rocker bottom foot, Long philtrum, Brachycephaly, Narrow pelvis bone, Ulnar bowin... |
OMIM:207410 |
Carpenter Syndrome 1 |
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Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Deviation of fing... |
OMIM:201000 |
Holt-Oram Syndrome |
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Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... |
ORPHA:392 |
Cardioacrofacial Dysplasia 1 |
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Long thorax, Diastema, Short philtrum, Midface retrusion, Postaxial polydactyly, Limb undergrowth... |
OMIM:619142 |
Martsolf Syndrome 1 |
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Metatarsus adductus, Pectus excavatum, High palate, Slender ulna, Short philtrum, Talipes equinov... |
OMIM:212720 |
Thoracic Dysostosis, Isolated |
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Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
Meier-Gorlin Syndrome 1 |
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Small anterior fontanelle, Cutaneous finger syndactyly, Genu varum, Cleft palate, Talipes equinov... |
OMIM:224690 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Short thorax, Limited elbow extension, Abnormality of pelvic girdle bone m... |
ORPHA:175 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Microdontia, Aplasia/Hypop... |
ORPHA:1307 |
Phocomelia, Schinzel Type |
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Fibular aplasia, High, narrow palate, Micrognathia, Radial bowing, Hand oligodactyly, Cleft palat... |
ORPHA:2879 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Shield chest, Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviati... |
OMIM:143095 |
Diastrophic Dysplasia |
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Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... |
ORPHA:628 |
Cohen Syndrome |
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Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... |
OMIM:216550 |
Ritscher-Schinzel Syndrome 3 |
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Poorly ossified vertebrae, Micrognathia, Death in infancy, Epiphyseal stippling, Shortening of al... |
OMIM:619135 |
Pyle Disease |
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Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... |
OMIM:265900 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot |
ORPHA:1122 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Coffin-Lowry Syndrome |
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Pes planus, Delayed eruption of teeth, Sleep apnea, Hypoplasia of the maxilla, Hypodontia, High p... |
ORPHA:192 |
Rhyns Syndrome |
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Radial bowing, Thickened calvaria, Osteopenia, Short femoral neck, Brachydactyly |
OMIM:602152 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... |
ORPHA:93316 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... |
ORPHA:96334 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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High palate, Talipes equinovarus, Tapered finger, Short palm, Camptodactyly of finger, Hypoplasia... |
ORPHA:85279 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... |
OMIM:271650 |
Acrocephalopolysyndactyly Type Iii |
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Mandibular prognathia, Lower limb undergrowth, Craniosynostosis, Malar flattening, Oxycephaly, Pr... |
OMIM:101120 |
Nager Syndrome |
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Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Respirat... |
ORPHA:245 |
Cenani-Lenz Syndrome |
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Toe syndactyly, Micromelia, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of ca... |
ORPHA:3258 |
Acheiropody |
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Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Tibial Torsion, Bilateral Medial |
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Abnormality of tibia morphology, Tibial torsion, Bowing of the legs |
OMIM:188800 |
Achondrogenesis Type 2 |
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Delayed proximal femoral epiphyseal ossification, Short long bone, Delayed pubic bone ossificatio... |
ORPHA:93296 |
Craniodiaphyseal Dysplasia |
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Frontal bossing, Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology |
ORPHA:1513 |
Thoracomelic Dysplasia |
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Bell-shaped thorax, Short ribs |
OMIM:273740 |
Pfeiffer Syndrome |
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Brachyturricephaly, High palate, Elbow ankylosis, Cloverleaf skull, Mandibular prognathia, Finger... |
OMIM:101600 |
Ivic Syndrome |
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Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... |
OMIM:147750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Ab... |
ORPHA:99642 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Micrognathia, Tibial bowing, Rocker bottom foot, Congenital bilateral hip dislocation, Limb under... |
ORPHA:453510 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Van Bogaert-Hozay Syndrome |
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Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand |
OMIM:277150 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Abnormal palate morphology, Respiratory insufficiency, Brachycephaly, Malar flattening, Abnormali... |
ORPHA:93262 |
Orofaciodigital Syndrome Type 10 |
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Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Dent Disease 1 |
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Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... |
OMIM:300009 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... |
OMIM:613091 |
Craniofacial-Deafness-Hand Syndrome |
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Ulnar deviation of finger, Abnormality of the wrist, Narrow mouth, Camptodactyly of finger, Ulnar... |
ORPHA:1529 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... |
ORPHA:93315 |
Autosomal Recessive Hypophosphatemic Rickets |
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Polyarticular arthritis, Genu varum, Tibial bowing, Lower limb asymmetry, Enlargement of the wris... |
ORPHA:289176 |
20P12.3 Microdeletion Syndrome |
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Broad hallux phalanx, Pectus carinatum, Long philtrum, Malar flattening, Narrow mouth, Broad thum... |
ORPHA:261295 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... |
OMIM:609616 |
Lethal Congenital Contracture Syndrome Type 1 |
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Micrognathia, Abnormality of the elbow, Abnormal hip bone morphology, Abnormal form of the verteb... |
ORPHA:1486 |
Mueller-Weiss Syndrome |
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Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... |
ORPHA:566943 |
Achondrogenesis Type 1B |
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Micrognathia, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Short thorax, Short foot, Nar... |
ORPHA:93298 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... |
ORPHA:397973 |
Fibrochondrogenesis 1 |
|
Broad ischia, Cleft palate, Malar flattening, Joint contracture of the hand, Short ribs, Camptoda... |
OMIM:228520 |
Bullous Dystrophy, Hereditary Macular Type |
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Acrocyanosis, Death in childhood, Short finger, Tapered finger |
OMIM:302000 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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2-3 toe syndactyly, High palate, Tapered finger, Brachycephaly, Long fingers, Flexion contracture... |
OMIM:218000 |
Cleidocranial Dysplasia |
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Carious teeth, Sinusitis, Cleft palate, Midface retrusion, Abnormal dental enamel morphology, Del... |
ORPHA:1452 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... |
ORPHA:2787 |
Achondroplasia |
|
Limited hip extension, Genu varum, Bowing of the legs, Rhizomelia, Generalized joint laxity, Mala... |
OMIM:100800 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Short long bone, Neonatal death, Bowing o... |
OMIM:224410 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Camptodactyly of finger, Pr... |
OMIM:612350 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Phocomelia, Ap... |
OMIM:276820 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Thin ribs, Delayed closure of the anterior fontanelle, Increased susceptibility to... |
OMIM:604922 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia |
OMIM:156232 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscol... |
OMIM:277300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Pectus excavatum, High palate, Micrognathia, Short philtrum, Arachnodactyly, Deep philtrum, Front... |
OMIM:309520 |
Hypophosphatasia, Childhood |
|
Carious teeth, Bowing of the legs, Craniosynostosis, Frontal bossing, Rachitic rosary, Dolichocep... |
OMIM:241510 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Rhizomelia,... |
OMIM:602271 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna |
OMIM:228940 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Pes planus, Camptodactyly of finger, Hypoplasia of the maxilla, Micrognathia, Pectus carin... |
ORPHA:2462 |
Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... |
OMIM:200600 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia |
OMIM:127350 |
Mietens Syndrome |
|
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:2557 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Thoracic hypoplasia, Small epiphyses, Cleft palate, High palate, Hip contracture, ... |
OMIM:618363 |
Keipert Syndrome |
|
Broad hallux phalanx, Broad thumb, Broad distal phalanx of finger, Tented upper lip vermilion, Ex... |
ORPHA:2662 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Thoracic hypoplasia, Upper limb undergrowth, Pulmonary hypoplasia |
OMIM:613124 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Pectus excavatum, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibul... |
ORPHA:2511 |
Achondrogenesis Type 1A |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, ... |
ORPHA:93299 |
Atelosteogenesis Type Iii |
|
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... |
ORPHA:56305 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Long clavicles, Micrognathia, Death in infancy, Thorac... |
OMIM:602613 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... |
ORPHA:1836 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe |
OMIM:618453 |
Hao-Fountain Syndrome |
|
Hallux valgus, Large fontanelles, Trigonocephaly, Central sleep apnea, Delayed cranial suture clo... |
OMIM:616863 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Cleft palate, Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia,... |
OMIM:601560 |
Platyspondylic Dysplasia, Torrance Type |
|
Abnormality of the carpal bones, Metaphyseal cupping, Genu varum, Hypoplastic scapulae, Bowing of... |
ORPHA:85166 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Craniosynostosis, Sandal gap, Finger syndactyly, Limitation of joint mobility, Cam... |
ORPHA:178303 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Microdontia, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung ... |
ORPHA:1765 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... |
OMIM:608728 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... |
ORPHA:2878 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Malar flattening, Broad palm, Small epiphyses, High palate, Anterior rib cupping, Flared iliac wi... |
OMIM:300232 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Abnormal dental enamel morphology, Delayed eruption of ... |
OMIM:257850 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... |
OMIM:300106 |
Osteogenesis Imperfecta, Type Xxi |
|
Pectus excavatum, Bowing of the legs, Pes valgus, Osteoporosis, Pes planus, Wormian bones, Joint ... |
OMIM:619131 |
Dyssegmental Dysplasia With Glaucoma |
|
Broad long bones, Cleft palate, Hip contracture, Malar flattening, Delayed epiphyseal ossificatio... |
OMIM:601561 |
Bone Dysplasia, Lethal, Holmgren Type |
|
Bell-shaped thorax, Narrow chest, Short ribs |
OMIM:211120 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Micrognathia, Cleft palate, Smooth philtrum, High palate, Celiac disease, Long philtrum, Lower li... |
ORPHA:576283 |
Hypophosphatasia |
|
Respiratory insufficiency, Large fontanelles, Bowing of the long bones, Craniosynostosis, Abnorma... |
ORPHA:436 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea, Clubbing |
OMIM:219400 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... |
ORPHA:93284 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Decreased calvarial ossification, Pectus excavatum, Pectus carinatum, Platyspo... |
OMIM:259440 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius |
OMIM:212780 |
Myhre Syndrome |
|
Abnormal lip morphology, Cleft palate, Midface retrusion, Abnormality of epiphysis morphology, Ma... |
ORPHA:2588 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Micrognathia, Long thorax, Horizontal ribs, Pulmonary hypoplasi... |
OMIM:617925 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... |
ORPHA:1802 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
Melnick-Needles Syndrome |
|
Short thorax, Delayed eruption of teeth, Delayed cranial suture closure, Cone-shaped epiphyses of... |
ORPHA:2484 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Genu varum, Hypoplastic scapulae, Beaking of vertebral bodies, Hypoplastic a... |
OMIM:607326 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Hallux valgus, Cleft palate, Triphalangeal thumb, Open bite, Brachycephaly, Cranio... |
ORPHA:794 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Recurrent respiratory infections, Talipes equinovarus, Kyph... |
ORPHA:85288 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... |
OMIM:617895 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... |
ORPHA:2780 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... |
OMIM:275595 |
Kagami-Ogata Syndrome |
|
Long clavicles, Micrognathia, Thin ribs, Long philtrum, Long fingers, Limb undergrowth, Pulmonary... |
OMIM:608149 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... |
ORPHA:50814 |
Schneckenbecken Dysplasia |
|
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Midface retrusio... |
OMIM:269250 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
Subaortic Stenosis--Short Stature Syndrome |
|
Pectus excavatum, Diastema, Shield chest, Midface retrusion, Broad finger, Broad toe, Small hand,... |
OMIM:271960 |
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
|
Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Abnormality of the maxill... |
ORPHA:329252 |
Craniosynostosis 2 |
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Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Cleft soft palate, Trigonocephaly, Cranio... |
OMIM:604757 |
Diamond-Blackfan Anemia 11 |
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Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp... |
OMIM:614900 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... |
OMIM:615633 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Pectus excavatum, Smooth philtrum, High palate, Diastema, Talipes equinovarus, Micrognathia, Mand... |
OMIM:300534 |
Aarskog-Scott Syndrome |
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Broad palm, Hypodontia, Cleft palate, Pectus excavatum, Single transverse palmar crease, Curved l... |
OMIM:305400 |
Atelosteogenesis Type Ii |
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Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... |
ORPHA:56304 |
Apert Syndrome |
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Brachyturricephaly, Cleft palate, Cloverleaf skull, Aplasia/Hypoplasia of the thumb, Delayed erup... |
ORPHA:87 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Schinzel-Giedion Midface Retraction Syndrome |
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Talipes equinovarus, Hypoplasia of first ribs, Thickened cortex of long bones, Malar flattening, ... |
OMIM:269150 |
Robinow Syndrome, Autosomal Dominant 2 |
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Micrognathia, Dental malocclusion, Dental crowding, Midface retrusion, Long philtrum, Cleft soft ... |
OMIM:616331 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... |
OMIM:271665 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
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Radial bowing, Subcutaneous calcification |
OMIM:617993 |
Mesomelic Dysplasia, Savarirayan Type |
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Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Micrognathia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasi... |
ORPHA:2256 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Widely spaced teeth, High palate, Cone-shaped epiphysis, Microdontia, Wide mouth, Macroglossia, T... |
OMIM:266920 |
Tibial Hemimelia |
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Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Meier-Gorlin Syndrome 3 |
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Thick lower lip vermilion, Aplasia/Hypoplasia of the patella, Genu varum, Microretrognathia, Micr... |
OMIM:613803 |
Epiphyseal Dysplasia, Multiple, 5 |
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Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Upper limb undergrowth, Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Sh... |
ORPHA:166277 |
Brachyolmia Type 1, Toledo Type |
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Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
Nablus Mask-Like Facial Syndrome |
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Smooth philtrum, High palate, Tapered finger, Long philtrum, Craniosynostosis, Joint contracture ... |
OMIM:608156 |
Osteogenesis Imperfecta, Type V |
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Limited pronation/supination of forearm, Pes planus, Wormian bones, Osteopenia, Joint hypermobili... |
OMIM:610967 |
Dysosteosclerosis |
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Oligodontia, Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of... |
OMIM:224300 |
Ear-Patella-Short Stature Syndrome |
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Cleft palate, Aplastic clavicle, Camptodactyly of finger, Respiratory failure, Hypoplasia of the ... |
ORPHA:2554 |
Cohen Syndrome |
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Aplasia/Hypoplasia of the tongue, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, T... |
ORPHA:193 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... |
OMIM:313400 |
Pseudoachondroplasia |
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Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Cranioectodermal Dysplasia |
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Abnormal dental enamel morphology, Finger syndactyly, Hypodontia, Microdontia, Osteoporosis, Fron... |
ORPHA:1515 |
Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Smooth philtrum, Neonatal respiratory distress, Talipes e... |
OMIM:251450 |
Desbuquois Dysplasia 2 |
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Monkey wrench femoral neck, Genu varum, Cleft palate, Neonatal respiratory distress, Epiphyseal d... |
OMIM:615777 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Cleidocranial Dysplasia |
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Cleft palate, Neonatal respiratory distress, Abnormal facility in opposing the shoulders, Aplasti... |
OMIM:119600 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Distal arthrogryposis, Micrognathia, Ankle flexion contracture, Hip contracture, Talipes equinova... |
OMIM:617468 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of epiphysis morphology... |
ORPHA:970 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Carious teeth, Thin clavicles, Thin ribs, Thin long b... |
ORPHA:93324 |
Stickler Syndrome, Type Ii |
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High, narrow palate, Micrognathia, Cleft palate, Pierre-Robin sequence, Long fingers, Malar flatt... |
OMIM:604841 |
Multiple Osteochondromas |
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Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... |
ORPHA:321 |
Oncogenic Osteomalacia |
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Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasia of th... |
ORPHA:352540 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Broad palm, Hypodontia, Midface retrusion, Epiphyseal stippling, Mandibular prognathia, Short met... |
OMIM:101800 |
Arthrogryposis, Distal, Type 3 |
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Distal arthrogryposis, Cutaneous finger syndactyly, Cleft palate, Talipes equinovarus, Camptodact... |
OMIM:114300 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Delayed pubic bo... |
OMIM:184250 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee flexion cont... |
OMIM:313420 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death |
OMIM:226735 |
Florid Cemento-Osseous Dysplasia |
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Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Recurrent aspiration pneumonia, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Diastrophic Dysplasia |
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Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... |
OMIM:222600 |
Osteogenesis Imperfecta, Type Xii |
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Brachyturricephaly, Micrognathia, High palate, Pectus carinatum, Osteoporosis, Malar flattening, ... |
OMIM:613849 |
Marshall Syndrome |
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Thick lower lip vermilion, Micrognathia, Cleft palate, High palate, Thickened calvaria, Long phil... |
ORPHA:560 |
Antley-Bixler Syndrome |
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Femoral bowing, Cleft palate, Elbow ankylosis, Long philtrum, Talipes, Brachycephaly, Narrow pelv... |
ORPHA:83 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
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Patellar subluxation, Osteoporosis, Supernumerary ribs, Retrognathia, Abnormal number of incisors... |
ORPHA:2958 |
Spondylometaphyseal Dysplasia, A4 Type |
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Flared, irregular rib ends, Platyspondyly, Coxa vara, Limitation of joint mobility, Short palm, M... |
ORPHA:168555 |
Familial Median Cleft Of The Upper And Lower Lips |
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Irregular dentition, Diastema, Cleft upper lip, Cleft lower lip, Fusion of gums, Abnormal mandibl... |
ORPHA:401942 |
Eiken Syndrome |
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Short middle phalanx of finger, Midface retrusion, Oligodontia, Pseudoepiphyses, Long hallux, Typ... |
OMIM:600002 |
Cleft Velum |
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Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia |
ORPHA:99772 |
Lowry-Maclean Syndrome |
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Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Micrognathia, Small ante... |
ORPHA:2409 |
Autosomal Dominant Spondylocostal Dysostosis |
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Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... |
ORPHA:1797 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Thickened ribs, Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical ... |
OMIM:122860 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Lower limb undergrowth, Craniosynostosis, Forearm undergrowth |
OMIM:218650 |
Craniosynostosis, Herrmann-Opitz Type |
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Micrognathia, Cleft palate, Brachycephaly, Craniosynostosis, Malar flattening, Split hand, Finger... |
ORPHA:2145 |
Zimmermann-Laband Syndrome 3 |
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Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... |
OMIM:618658 |
Fibrochondrogenesis |
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Plagiocephaly, Cleft palate, Respiratory insufficiency, Hypoplastic scapulae, Abnormality of the ... |
ORPHA:2021 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Thoracic kyphoscoliosis, Smooth philtrum, High palate, Increased laxity of ankles, Pectus carinat... |
ORPHA:481152 |
Weill-Marchesani Syndrome 1 |
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Broad metatarsal, Broad palm, Thin bony cortex, Brachycephaly, Tooth malposition, Narrow palate, ... |
OMIM:277600 |
Neuralgic Amyotrophy |
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Cleft palate, Respiratory insufficiency, Acrocyanosis, Sprengel anomaly, Narrow mouth, Scapular w... |
ORPHA:2901 |
Bruck Syndrome 1 |
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Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Pectus carina... |
OMIM:259450 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Pectus carinatum, Delayed ossification of carpal bones, Brachydactyly, Kyphosis |
OMIM:618392 |
Femoral-Facial Syndrome |
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Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Sprengel anomaly, Hip d... |
ORPHA:1988 |
Gollop-Wolfgang Complex |
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Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Temple Syndrome |
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Micrognathia, Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Joint hypermobi... |
OMIM:616222 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Short 1st metacarpal, Camptodactyly, Broad alveolar ridges, Radioulnar... |
ORPHA:798 |
Crouzon Disease |
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Respiratory insufficiency, Midface retrusion, Brachycephaly, Frontal bossing, Narrow palate, Turr... |
ORPHA:207 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
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Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Meier-Gorlin Syndrome 4 |
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Thick lower lip vermilion, Micrognathia, Patellar aplasia, Lateral clavicle hook, Genu recurvatum... |
OMIM:613804 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... |
ORPHA:2319 |
Anauxetic Dysplasia 3 |
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Plagiocephaly, Pectus excavatum, Short middle phalanx of finger, Midface retrusion, Oligodontia, ... |
OMIM:618853 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
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Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
ORPHA:2669 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Horizontal ribs, Pulmonary hypoplasia, Pectus carinatum, Polysyndactyly of hallux, Lateral clavic... |
OMIM:263520 |
Ruvalcaba Syndrome |
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Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Narrow chest, Limited elbow... |
OMIM:180870 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Thoracic hypoplasia, Micrognathia, Cleft palate, Adducted thumb, Decreased fibular diameter, Brac... |
OMIM:616897 |
Alagille Syndrome |
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Micrognathia, Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Spina ... |
ORPHA:52 |
Lethal Congenital Contracture Syndrome 1 |
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Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Pul... |
OMIM:253310 |
Heart-Hand Syndrome Type 2 |
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Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... |
ORPHA:1350 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Thickened calvaria, Oligodontia, Anodontia, Hypoplastic frontal sinuses, Abnormal v... |
ORPHA:90650 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Micrognathia, Deep palmar crease, Temporomandibular joint ankylosis, Bifid u... |
ORPHA:2872 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... |
ORPHA:93304 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Fibular bowing, Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Femora... |
ORPHA:85165 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Oligodontia, Brachycephaly, Short distal phalanx of finger, Coronal cra... |
ORPHA:2095 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Abnormal palate morphology, Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Fronta... |
ORPHA:1278 |
Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Broad hallux phalanx, Metopic synostosis, Broad thumb, 3-4 finger syndactyly,... |
OMIM:175700 |
Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253000 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flatten... |
OMIM:311300 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Talipes equinovarus, Proximal lower limb amyotrophy, Arthrogryposis multiplex co... |
OMIM:600175 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... |
OMIM:613330 |
Rare Circulatory System Disease |
|
Abnormal foot morphology, Abnormality of the knee, Abnormal metatarsal morphology, Enlargement of... |
ORPHA:98028 |
Achondroplasia |
|
Short middle phalanx of finger, Limited elbow extension, Restrictive ventilatory defect, Trident ... |
ORPHA:15 |
Mosaic Trisomy 14 |
|
Micrognathia, High palate, Cleft palate, Ectopic anus, Wide mouth, Lower limb asymmetry, Frontal ... |
ORPHA:1703 |
Omodysplasia 1 |
|
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplas... |
OMIM:258315 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like ver... |
OMIM:151210 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness, Coxa val... |
OMIM:616583 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphysis, Anterior rib cuppi... |
OMIM:184253 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, High palate, Long palm, Pectus carinatum, Mandibular prognathia, Long foot, Nar... |
OMIM:300676 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Patellar aplasia, Long philtrum, Slender long bone, Hypoplasia of the capital femor... |
OMIM:613805 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... |
OMIM:132400 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short toe, Short phalanx of finger, Bruising susceptibility, Hypodontia, Micrognathia, Gingival b... |
OMIM:225410 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis |
OMIM:616471 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... |
OMIM:250420 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Microretrognathia, Talipes equinovarus, Neonatal death, Stillbirth, Arthrogry... |
OMIM:236500 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy... |
ORPHA:249 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Pectus excavatum, Osteoporosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Scoliosis |
OMIM:615398 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Talipes equinovarus, Limited elbow extension, Elbow flexion contracture, Micrognathia, Pectus car... |
ORPHA:93359 |
Thoracomelic Dysplasia |
|
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... |
ORPHA:1803 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extens... |
ORPHA:156728 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormal foot morphology, Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone min... |
ORPHA:94068 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253010 |
Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Short thorax, Platyspondyly, Abn... |
ORPHA:2655 |
Baller-Gerold Syndrome |
|
Brachyturricephaly, Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Shor... |
OMIM:218600 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Small epiphyses, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Tapered fi... |
OMIM:601668 |
Dysspondyloenchondromatosis |
|
Lower limb asymmetry, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Ab... |
ORPHA:85198 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Cleft palate, Malar flattening, Oxycephaly, Syndactyly, Delayed cranial suture clo... |
OMIM:101400 |
Microcephaly-Capillary Malformation Syndrome |
|
Cleft palate, Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly |
OMIM:614261 |
Rapp-Hodgkin Syndrome |
|
Anhidrotic ectodermal dysplasia, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velophar... |
OMIM:129400 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Mental Retardation, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Central apnea, Neonatal respiratory distress, Epiphyseal stippling, Short dist... |
ORPHA:79345 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Cleft upper lip, Abnormal thorax morphology, Postaxial foot p... |
OMIM:601027 |
Menkes Disease |
|
Brachycephaly, Metaphyseal widening, Joint laxity, Osteoporosis, Wormian bones, Death in childhoo... |
OMIM:309400 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Cleft palate, Bowing of the long bones, Arachnodactyly, Sandal gap, Non-midline cleft lip, Cranio... |
ORPHA:2725 |
Atelosteogenesis Type I |
|
Thoracic hypoplasia, Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft v... |
ORPHA:1190 |
Weill-Marchesani Syndrome 2 |
|
Broad metatarsal, Broad palm, High palate, Thin bony cortex, Flexion contracture of toe, Short fi... |
OMIM:608328 |
Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Thin bony cortex, Thin ribs, Bowing of the long bones, Wormian bones, Generalized o... |
OMIM:617952 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal foot morphology, Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspond... |
OMIM:184252 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Cleft palate, Trigonocephaly, Accessory oral frenulum, Malar flattening, Preaxial h... |
ORPHA:79113 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Midface r... |
ORPHA:313855 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Wormian bones, Thoracic kyphosis,... |
OMIM:619638 |
Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Long ph... |
OMIM:610682 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Death in infancy, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobation, P... |
ORPHA:1120 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... |
ORPHA:1952 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
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Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... |
OMIM:256200 |
Postaxial Acrofacial Dysostosis |
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Abnormal foot morphology, Micrognathia, Pectus excavatum, Congenital hip dislocation, Hypoplasia ... |
OMIM:263750 |
Slc35A2-Cdg |
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Metatarsus adductus, Limb joint contracture, Talipes equinovarus, Aplasia/hypoplasia involving bo... |
ORPHA:356961 |
Renal Dysplasia-Limb Defects Syndrome |
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Fibular aplasia, Micrognathia, Thin ribs, Talipes equinovarus, Phocomelia, Pneumothorax, Neonatal... |
OMIM:266910 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... |
ORPHA:93360 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Hemivertebrae, Vertebral clefting, Recurrent respiratory infections, Rib fusion, Short neck, Vert... |
OMIM:608681 |
White Forelock With Malformations |
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Abnormal palate morphology, Deep philtrum, Finger syndactyly, Sprengel anomaly, Abnormal rib morp... |
ORPHA:2475 |
Mesomelia-Synostoses Syndrome |
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Abnormal foot morphology, Abnormality of the knee, Malar flattening, Synostosis of joints, Brachy... |
ORPHA:2496 |
Branchioskeletogenital Syndrome |
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Carious teeth, Upper limb peromelia, Amelia involving the lower limbs, Hypoplasia of the maxilla,... |
ORPHA:1299 |
Mucolipidosis Iii Gamma |
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Flat capital femoral epiphysis, Pectus carinatum, Kyphosis, Genu valgum, Hyperlordosis, Abnormal ... |
OMIM:252605 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
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Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple... |
OMIM:273050 |
X-Linked Hypophosphatemia |
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Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Generaliz... |
ORPHA:89936 |
Distal Xq28 Microduplication Syndrome |
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Thick lower lip vermilion, Metatarsus adductus, High palate, Short lingual frenulum, Epistaxis, O... |
ORPHA:293939 |
Tetrasomy 5P |
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Pectus excavatum, High palate, Micrognathia, Midface retrusion, Talipes equinovarus, Long philtru... |
ORPHA:3309 |
Scheuermann Disease |
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Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Achondrogenesis, Type Ii |
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Abnormal foot morphology, Horizontal ribs, Broad long bones, Cleft palate, Hypoplastic iliac wing... |
OMIM:200610 |
Brachydactyly Type C |
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Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
Holzgreve Syndrome |
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Abnormality of the ulna, Aplasia/Hypoplasia of the lungs, Abnormal rib morphology, Hand polydacty... |
ORPHA:2167 |
Orofaciodigital Syndrome Iv |
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Toe syndactyly, Micrognathia, Pectus excavatum, Postaxial polydactyly, Short finger, Foot polydac... |
OMIM:258860 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ... |
ORPHA:2502 |
Campomelia, Cumming Type |
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Abnormal intestine morphology, Cleft palate, Death in infancy, Bowing of the long bones, Abnormal... |
ORPHA:1318 |
Postaxial Acrofacial Dysostosis |
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Micrognathia, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Hypoplasia of... |
ORPHA:246 |
Rhizomelic Syndrome, Urbach Type |
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Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the knee, Abnormalit... |
ORPHA:3098 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Micrognathia, Cleft palate, Genu valgum, Short foot, Short metacarpal, Narrow mouth, Patellar dis... |
OMIM:614078 |
Thrombocytopenia-Absent Radius Syndrome |
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Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... |
ORPHA:3320 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Micrognathia, Cleft palate, Midface retrusion, Hypoplastic scapulae, Metaphyseal widening, Rhizom... |
ORPHA:440354 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Long clavicles, Pectus excavatum, High palate, Thickened calvaria, Large fontanelles, Osteoporosi... |
OMIM:259100 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Plagiocephaly, Micrognathia, Cleft palate, Thin ribs, Trigonocephaly, Craniosynostosis, Arthrogry... |
OMIM:618265 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Amelia, Toe syndactyly, Decreased skull ossification, Syndactyly, Clinodactyly of the 5th finger,... |
OMIM:601163 |
Mental Retardation, X-Linked 82 |
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Scoliosis, Kyphosis |
OMIM:300518 |
Cole-Carpenter Syndrome 2 |
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Pectus excavatum, High palate, Thin ribs, Wormian bones, Osteopenia, Narrow iliac wing, Frontal b... |
OMIM:616294 |
Osteogenesis Imperfecta, Type Xiii |
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Pectus carinatum, Long philtrum, Osteoporosis, Thin vermilion border, Dislocated radial head, Ara... |
OMIM:614856 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... |
OMIM:263540 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Genu varum, Limb undergrowth, Metaphyseal irregularity, Platyspondyly, Short ribs, Vertebral hypo... |
OMIM:602557 |
Laurin-Sandrow Syndrome |
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Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Mucopolysaccharidosis Type 4 |
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Carious teeth, Wide mouth, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the l... |
ORPHA:582 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Large posterior fontanelle, Cleft palate, Aplastic clavicle, Abnormal dental enamel morphology, S... |
ORPHA:85199 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Micrognathia, High palate, Abnormality of the philtrum, Wormian bones, Delayed eruption of teeth,... |
ORPHA:2863 |
Lethal Osteosclerotic Bone Dysplasia |
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Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular aplasia, Gingival overgr... |
ORPHA:1832 |
Distal Monosomy 17Q |
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Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Small ha... |
ORPHA:1597 |
Chromosome 16Q22 Deletion Syndrome |
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Micrognathia, High palate, Wormian bones, Frontal bossing, Wide anterior fontanel, Hip dysplasia,... |
OMIM:614541 |
Myhre Syndrome |
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2-3 toe syndactyly, Cleft palate, Malar flattening, Cleft lip, Thin upper lip vermilion, Short to... |
OMIM:139210 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shorten... |
OMIM:300863 |
Brachymesomelia-Renal Syndrome |
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Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... |
OMIM:113470 |
Acro-Renal-Ocular Syndrome |
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Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... |
ORPHA:959 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
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Metaphyseal irregularity, Malar flattening, Streaky metaphyseal sclerosis, Carpal bone hypoplasia... |
OMIM:603546 |
Acrofacial Dysostosis, Cincinnati Type |
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Micrognathia, Cleft palate, Midface retrusion, Retrognathia, Acetabular dysplasia, Femoral bowing... |
OMIM:616462 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Abnormal foot morphology, Micrognathia, Talipes equinovarus, Hand clenching, Congenital hip dislo... |
OMIM:618291 |
Cleft Lip/Palate |
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Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Progressive Pseudorheumatoid Dysplasia |
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Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
Cerebrofacioarticular Syndrome |
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Irregular dentition, Micrognathia, Talipes equinovarus, Large fontanelles, Osteopenia, Syndactyly... |
ORPHA:314679 |
Aphalangy With Hemivertebrae |
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Hemivertebrae, Aphalangy of hands and feet, Pulmonary hypoplasia, Aplasia of the phalanges of the... |
OMIM:207620 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
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Pectus excavatum, Pectus carinatum, Tapered finger, Large hands, Kyphosis, Scoliosis |
ORPHA:276630 |
Cole-Carpenter Syndrome |
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Micrognathia, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the met... |
ORPHA:2050 |
Phaver Syndrome |
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Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Ulnar deviation of finger, Abnorm... |
ORPHA:2876 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... |
OMIM:250220 |
Spondylospinal Thoracic Dysostosis |
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Micrognathia, Pulmonary hypoplasia, Short thorax, Arthrogryposis multiplex congenita |
OMIM:601809 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Abnormal palate morphology, Abnormality of the knee, Malar flattening, Congenital hip dislocation... |
ORPHA:2412 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Pes cavus, Scoliosis, Kyphosis |
OMIM:617087 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Long philtrum, Biparietal narrowing, Thick vermilion border, Hypoplasia of the maxilla, Clinodact... |
ORPHA:228396 |
Familial Scheuermann Disease |
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Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sh... |
OMIM:617102 |
Cooper-Jabs Syndrome |
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Respiratory insufficiency, Brachycephaly, Missing ribs, Proximal placement of thumb, Malar flatte... |
ORPHA:1488 |
Cleft Palate, Deafness, And Oligodontia |
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Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition |
OMIM:216300 |
Fetal Akinesia Deformation Sequence 4 |
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Micrognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexion contractu... |
OMIM:618393 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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High, narrow palate, Hypodontia, Tapered finger, Short toe, Joint dislocation, Glossoptosis, Abno... |
ORPHA:3201 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
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Micrognathia, Cleft palate, Microdontia of primary teeth, High palate, Talipes equinovarus, Bifid... |
OMIM:213980 |
Thanatophoric Dysplasia, Type I |
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Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... |
OMIM:187600 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
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Smooth philtrum, Midface retrusion, Thin upper lip vermilion, Widely-spaced incisors, Hypoplasia ... |
OMIM:618737 |
Duane-Radial Ray Syndrome |
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Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... |
OMIM:607323 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Metaphyseal cupping, Large fontanelles, Tachypnea, Pulmonary arterial hypertension, Short ribs, D... |
OMIM:613320 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Brachycephaly, Malar flattening, Hip dislocation, Coxa valga, Hypoplasia of the maxilla |
OMIM:109120 |
Thanatophoric Dysplasia, Type Ii |
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Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
Osteoporosis-Pseudoglioma Syndrome |
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Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
Myopathic Ehlers-Danlos Syndrome |
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Talipes equinovarus, Joint contracture of the hand, Pes planus, Elbow flexion contracture, Contra... |
ORPHA:536516 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... |
OMIM:617927 |
Frontometaphyseal Dysplasia 1 |
|