| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
| Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Delayed eruption of permanent tee... |
OMIM:112350 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Flattened epip... |
ORPHA:166016 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... |
ORPHA:3344 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Disproportionate short sta... |
ORPHA:2501 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... |
OMIM:600785 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhiz... |
OMIM:608940 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... |
OMIM:271530 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Enlarged epiphyses, Camptodactyly, Short stature, Joint contracture of the hand, Os... |
OMIM:264010 |
| Shox-Related Short Stature |
|
Scoliosis, Cubitus valgus, Genu valgum, Short neck, Ulnar radial head dislocation, Madelung defor... |
ORPHA:314795 |
| Parastremmatic Dwarfism |
|
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Severe short stature, Short neck |
OMIM:168400 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality... |
ORPHA:2768 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Limited elbow extension, Femoral bowing, Platyspondyly, Flared iliac wing, Rhizome... |
OMIM:602111 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... |
OMIM:611702 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... |
OMIM:156500 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... |
OMIM:259420 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... |
OMIM:108721 |
| Leri-Weill Dyschondrosteosis |
|
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... |
OMIM:127300 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... |
OMIM:250215 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short ... |
OMIM:618728 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... |
ORPHA:1427 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... |
ORPHA:1159 |
| Geographic And Fissured Tongue |
|
Furrowed tongue, Geographic tongue |
OMIM:137400 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Mandibular prognathia, Thorac... |
OMIM:223800 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... |
OMIM:307800 |
| Hip Dysplasia, Beukes Type |
|
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... |
ORPHA:2114 |
| Hypochondroplasia |
|
Limited elbow extension, Childhood onset short-limb short stature, Malar flattening, Lumbar hyper... |
OMIM:146000 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the maxilla... |
OMIM:231070 |
| Progressive Pseudorheumatoid Dysplasia |
|
Metaphyseal widening, Camptodactyly of finger, Platyspondyly, Osteoporosis, Enlarged interphalang... |
OMIM:208230 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... |
ORPHA:240 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
ORPHA:750 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:600081 |
| Gnathodiaphyseal Dysplasia |
|
Scoliosis, Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteo... |
ORPHA:53697 |
| Tibial Torsion, Bilateral Medial |
|
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Disproportion... |
ORPHA:93351 |
| Fibular Hemimelia |
|
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... |
ORPHA:93323 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... |
OMIM:114000 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis Dissecans, Genu varum |
OMIM:259200 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... |
OMIM:166740 |
| Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... |
OMIM:277950 |
| Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Abnormality of the... |
ORPHA:566943 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... |
ORPHA:93284 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Platyspondyly, Broad long bones, Absent ossification of calvaria, Recurrent fractu... |
OMIM:166210 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Mild short stature, Irregular epiphyses, Epiphyseal dysplasia, Genu varum, Flattened epiphysis, K... |
OMIM:600204 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures |
OMIM:256720 |
| Metaphyseal Dysplasia, Spahr Type |
|
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Disproportionate short stature,... |
OMIM:250400 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes pl... |
OMIM:251450 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, C... |
OMIM:277440 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth |
OMIM:618732 |
| Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... |
OMIM:259450 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, D... |
OMIM:264700 |
| Stuve-Wiedemann Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Elbow... |
OMIM:601559 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormality of the vertebral column, Metaphyseal irregularity, Joint laxity, Metaphyseal cupping ... |
OMIM:250460 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:300554 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Genu valgum, Hyperlordosis, Mild short stature, Metaphyseal irregularity, Pes planus, ... |
ORPHA:93315 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... |
OMIM:184260 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance |
OMIM:614296 |
| Osteogenesis Imperfecta, Type Viii |
|
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Wide anterior fontanel, Joint laxity, Ext... |
OMIM:610915 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, ... |
OMIM:617719 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... |
OMIM:184255 |
| Pyle Disease |
|
Scoliosis, Limited elbow extension, Delayed eruption of teeth, Genu valgum, Carious teeth, Platys... |
OMIM:265900 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Platyspondyly, Flexion contracture, Absent ossification of capital femoral epiphysis, Tibial bowi... |
OMIM:245160 |
| Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing |
OMIM:138930 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Growth delay, Metaphyseal dysplasia, Short s... |
OMIM:614727 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Abnormality of the knee, Platyspondyly, Osteoporosis, Metaphyseal irregularity, Micrognathia, Met... |
ORPHA:319195 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:241530 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Short phalanx of finger, Mild short stature, Generalized joint laxity, Hip osteoarth... |
OMIM:132400 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification ... |
OMIM:618363 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... |
ORPHA:174 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... |
ORPHA:40 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... |
OMIM:609223 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Lower limb undergrowth, Short lower limbs, Intrauterine growth retardation, Microg... |
OMIM:236640 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity |
OMIM:613073 |
| Metatropic Dysplasia |
|
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... |
OMIM:156530 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... |
ORPHA:3035 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Increased bone mineral density, Rickets of the lower limbs, Pseudo-fractures, P... |
ORPHA:289176 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Delayed eruption of teeth, Platyspondyly, Cone-shaped epiphysis, Short stature, Den... |
ORPHA:71267 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Short distal phalanx o... |
OMIM:311895 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... |
OMIM:609324 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... |
ORPHA:93308 |
| Bruck Syndrome |
|
Scoliosis, Wormian bones, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Kyphos... |
ORPHA:2771 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Joint hyperflexibility, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resor... |
ORPHA:289157 |
| Microphthalmia With Limb Anomalies |
|
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Growth delay, Foo... |
OMIM:206920 |
| Dysspondyloenchondromatosis |
|
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... |
ORPHA:85198 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Stiff shoulders, Hip ... |
ORPHA:2619 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Childhood o... |
OMIM:177170 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... |
OMIM:108720 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... |
ORPHA:93316 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... |
OMIM:609325 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... |
OMIM:210720 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... |
OMIM:607078 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Hand oligodactyl... |
ORPHA:3104 |
| Osteogenesis Imperfecta, Type Xxi |
|
Scoliosis, Wormian bones, Platyspondyly, Joint hypermobility, Osteoporosis, Pes planus, Recurrent... |
OMIM:619131 |
| Achondroplasia |
|
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... |
OMIM:100800 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Scoliosis, Platyspondyly, Osteoporosis, Hypoplasia of the primary teeth, Kypho... |
OMIM:234250 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Osteoporosis, Enlarged joints, Joint laxity, Recurrent fractures, Short stature, Epiphyseal dyspl... |
OMIM:248010 |
| Otopalatodigital Syndrome, Type Ii |
|
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... |
OMIM:304120 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Short neck, Micrognathia, O... |
ORPHA:94068 |
| Campomelic Dysplasia |
|
Scoliosis, Short neck, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, B... |
ORPHA:140 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
| Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility |
ORPHA:3294 |
| Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, R... |
OMIM:300009 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:1802 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol... |
OMIM:616583 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... |
OMIM:608728 |
| Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Protruding tongue, Macroglossia |
OMIM:227250 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance |
OMIM:147630 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Osteoporosis, Patellar subluxation, Radial deviation of finger, Clinodactyly, Talipes equinovarus... |
OMIM:309610 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes pla... |
OMIM:143095 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Large elbo... |
OMIM:253000 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... |
OMIM:617974 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Scoliosis, Platyspondyly, Carious teeth, Osteoporosis, Recurrent fractures, Severe short stature,... |
OMIM:126550 |
| Osteogenesis Imperfecta, Type Xii |
|
Scoliosis, Wormian bones, Delayed eruption of teeth, Osteoporosis, Generalized osteoporosis, Shor... |
OMIM:613849 |
| Urban-Rogers-Meyer Syndrome |
|
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... |
ORPHA:3409 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Scoliosis, Osteoporosis, Delayed thelarche, Joint laxity, Delayed puberty, Short stature, Short neck |
OMIM:616033 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Camptodactyly, Kyphosis, Short stature, Short thumb, Clinodactyly of the 5th finger |
OMIM:618453 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Talipes equinovarus, Neonatal short-limb short stature, Hypoplast... |
OMIM:222600 |
| Geroderma Osteodysplastica |
|
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Abnormality of epiphysis morp... |
ORPHA:2078 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... |
OMIM:249710 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Delayed puberty |
OMIM:615270 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t... |
ORPHA:429 |
| Insulin-Like Growth Factor I Deficiency |
|
Radial deviation of finger, Clinodactyly, Short stature, Intrauterine growth retardation, Osteope... |
OMIM:608747 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Micrognathia, Camptodactyly... |
OMIM:214150 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Patellar subluxation, Finger clinodactyly, Bilateral talipes equinovarus, Retrognat... |
ORPHA:2958 |
| Pigmented Villonodular Synovitis |
|
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Joint swelling, O... |
ORPHA:66627 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Genu valgum, Carious teeth, Hyperlordosis, Platyspondyly, Constricted iliac wing, Join... |
OMIM:253010 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Kyphomelic Dysplasia |
|
Radial bowing, Platyspondyly, Short femur, Disproportionate short stature, Micrognathia, Dumbbell... |
OMIM:211350 |
| Dyssegmental Dysplasia With Glaucoma |
|
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... |
OMIM:601561 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... |
OMIM:156510 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... |
OMIM:183849 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Pes planus, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses ... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Platyspondyly, Metaphyseal irregularity, Proportionate short stature, Joint contract... |
OMIM:601668 |
| Eiken Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... |
ORPHA:79106 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Posterior scalloping of vertebra... |
OMIM:603546 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Osteoporosis, Contractures of the large joints, Short stature, Postnatal growth retardation |
OMIM:608278 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... |
OMIM:607326 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... |
OMIM:118651 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... |
OMIM:226980 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... |
ORPHA:166011 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Enlarged joints, Limb undergrowth, Lumbar hyperlordosis, Bowing of the l... |
ORPHA:156728 |
| Campomelic Dysplasia |
|
Disproportionate short-limb short stature, Neonatal short-limb short stature, Wide anterior fonta... |
OMIM:114290 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Camptodactyly of finger, Osteoporosis, Kyphosis, Short stature, Abnormality of the cer... |
ORPHA:48431 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short stature, Shor... |
OMIM:612463 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Mild short stature, Joint laxity, Kyphosis, Malar flattening, Increased susceptibility... |
OMIM:130060 |
| Brachyolmia Type 1, Toledo Type |
|
Squared-off platyspondyly, Broad tibial metaphyses, Childhood-onset short-trunk short stature, Ba... |
OMIM:271630 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Wormian bones, Foot acroosteolysis, Hyperlordosis, Osteolysis, Abnormali... |
ORPHA:970 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Recurrent fractures, Talipes equinovalgus, Limb undergrowth, Tibial bowing, C... |
ORPHA:453510 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu valgum, Platyspondyly, Proportionate short stature, Genu varum, Flat capital femoral epiphysis |
OMIM:608361 |
| Immunodeficiency 12 |
|
Osteoporosis, Growth delay |
OMIM:615468 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... |
ORPHA:2370 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... |
ORPHA:85435 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Osteogenesis Imperfecta, Type Xiii |
|
Scoliosis, Wormian bones, Dislocated radial head, Platyspondyly, Joint hypermobility, Osteoporosi... |
OMIM:614856 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Osteoporosis, Hyperlordosis, Short stature |
ORPHA:408 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... |
ORPHA:93360 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Pes planus, Interp... |
OMIM:259600 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Genu valgum, Abnormality of epiphysis morphology, Abnormality of the epi... |
ORPHA:166002 |
| Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Tarsal synostosis, Broad thumb, Elbow dislocation, Abnormality of t... |
ORPHA:1106 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... |
OMIM:136300 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Cranioectodermal Dysplasia |
|
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... |
ORPHA:1515 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... |
OMIM:226900 |
| Metatropic Dysplasia |
|
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... |
ORPHA:2635 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnormali... |
ORPHA:3098 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Sclerosis of skull base, Severe short sta... |
OMIM:313420 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Prominent calcaneus, Broad thumb, Short neck, Generalized joint laxity, ... |
ORPHA:251028 |
| Osteogenesis Imperfecta, Type V |
|
Wormian bones, Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Pes planus, Recurr... |
OMIM:610967 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Flexion contracture, Joint laxity, Kyphosis |
OMIM:616471 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteoporosis, Squared iliac bones, Short neck, Pes planus, Thoracic scoliosis, Shoulder dislocati... |
OMIM:618000 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... |
OMIM:607778 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hip dysplasia, Scoliosis, Osteoporosis, Rickets, Joint hyperflexibility, Severe short stature, Ab... |
ORPHA:1901 |
| Menkes Disease |
|
Osteoporosis, Wormian bones, Joint laxity, Intrauterine growth retardation, Short stature, Metaph... |
OMIM:309400 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... |
OMIM:615923 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... |
ORPHA:93359 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Pes planus, Wrist flexion contracture, Short neck, Micrognathia, Oste... |
OMIM:255800 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Kyphosis, Short stature |
ORPHA:2786 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... |
ORPHA:2777 |
| Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... |
ORPHA:352540 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Short stature,... |
OMIM:609813 |
| Nestor-Guillermo Progeria Syndrome |
|
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Delayed closure of the anterio... |
OMIM:614008 |
| Shashi-Pena Syndrome |
|
Scoliosis, Osteoporosis, Retrognathia, Kyphosis |
OMIM:617190 |
| Cleidocranial Dysplasia |
|
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia... |
ORPHA:1452 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... |
ORPHA:93352 |
| Diastrophic Dwarfism |
|
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... |
ORPHA:628 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Wormian bones, Osteoporosis, Joint laxity, Crumpled long b... |
ORPHA:2788 |
| Cartilage-Hair Hypoplasia |
|
Scoliosis, Abnormality of the metaphysis, Short neck, Disproportionate short-limb short stature, ... |
ORPHA:175 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... |
ORPHA:1952 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Wormian bones, Platyspondyly, Kyphosis, Decreased calvarial ossification, Recurrent fr... |
OMIM:259440 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Arthrogryposis multiplex congenita, Short neck, Camptodactyly, Kyphosis, Flex... |
OMIM:618393 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short stature |
OMIM:618392 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... |
OMIM:113000 |
| Lichtenstein Syndrome |
|
Enamel hypoplasia, Osteoporosis, Carious teeth, Pes cavus, Metacarpophalangeal joint contracture,... |
OMIM:246550 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... |
OMIM:313400 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... |
OMIM:601376 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Seve... |
ORPHA:1240 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Short distal p... |
ORPHA:1858 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Short stature, Kyphoscoliosis, Abnormality of the meta... |
ORPHA:93304 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, Overlapping toe, Camptodactyly, Short distal phalanx of finger, Protruding tongue... |
OMIM:300963 |
| Chst3-Related Skeletal Dysplasia |
|
Scoliosis, Cubitus valgus, Genu valgum, Enlarged joints, Delayed eruption of teeth, Abnormal form... |
ORPHA:263463 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... |
OMIM:618291 |
| Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... |
OMIM:617952 |
| Nail-Patella Syndrome |
|
Enamel hypoplasia, Scoliosis, Abnormality of tibia morphology, Pes planus, Abnormality of the elb... |
ORPHA:2614 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis, Osteoporosis |
OMIM:618234 |
| Mycetoma |
|
Abnormality of the knee, Osteoporosis, Osteomyelitis, Abnormal form of the vertebral bodies, Bone... |
ORPHA:2583 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... |
OMIM:215150 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... |
ORPHA:93314 |
| Familial Anetoderma |
|
Lumbar hyperlordosis, Abnormality of tibia morphology, Generalized joint laxity |
ORPHA:228277 |
| Czech Dysplasia |
|
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... |
OMIM:609162 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... |
OMIM:601560 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Genu valgum, Delayed eruption of teeth, Talipes equinovarus, Pes planus,... |
OMIM:309350 |
| Widow'S Peak Syndrome |
|
Mild short stature, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Recurrent patellar dislocati... |
OMIM:314570 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... |
OMIM:271650 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:577 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... |
OMIM:612847 |
| Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... |
ORPHA:93430 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... |
OMIM:184252 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Proximal lower limb amyotrophy, Pes... |
OMIM:600175 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Dysplasia Epiphysealis Hemimelica |
|
Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphology, Pes planus, Irregular epiphy... |
ORPHA:1822 |
| Down Syndrome |
|
Macroglossia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mouth, Thick lower l... |
ORPHA:870 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Genu valgum, Carious teeth, Abnormal dental enamel morphology, Hyperlordosis, Platyspo... |
ORPHA:582 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Hyperlordosis, Flared iliac wing, Short palm, Ovoid vertebral bodies, Cone-shaped epip... |
ORPHA:63446 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Growth delay, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu varum, Osteopenia |
OMIM:619073 |
| Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility, Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia |
OMIM:600118 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Small hand, Short stature, Short foot, Talipes equinovarus, Hip dislocation |
OMIM:300434 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... |
OMIM:613330 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Growth delay, Short stature |
OMIM:613606 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... |
ORPHA:2633 |
| Laron Syndrome |
|
Limb undergrowth, Severe short stature, Abnormal joint morphology, Short long bone, Delayed menarche |
OMIM:262500 |
| Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... |
ORPHA:1423 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Thoracic platyspond... |
ORPHA:457395 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... |
ORPHA:93307 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... |
OMIM:184250 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... |
OMIM:112910 |
| Ruvalcaba Syndrome |
|
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short fo... |
OMIM:180870 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... |
OMIM:249700 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
| Osteochondritis Dissecans |
|
Abnormality of the knee, Limited elbow extension, Abnormality of tibia morphology, Decreased hip ... |
ORPHA:2764 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Genu valgum, Disproportionate short-limb short stature, Elbow dislocation, Joint h... |
ORPHA:1803 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... |
ORPHA:2639 |
| Craniometadiaphyseal Dysplasia |
|
Scoliosis, Cubitus valgus, Wormian bones, Genu valgum, Carious teeth, Wide anterior fontanel, Bro... |
OMIM:269300 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o... |
ORPHA:93346 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... |
ORPHA:239 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation, Short stature |
ORPHA:85288 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Severe short ... |
OMIM:102370 |
| Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Wormian bones, Moderate generalized osteoporosis, Biconcave flattened vertebrae, Abnormal joint m... |
OMIM:166230 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Short neck, Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Intrauterine growth r... |
ORPHA:96183 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... |
OMIM:300106 |
| Juvenile Paget Disease |
|
Osteoporosis, Bowing of the long bones, Recurrent fractures, Coarse metaphyseal trabecularization... |
ORPHA:2801 |
| Osteogenesis Imperfecta, Type Xvii |
|
Scoliosis, Platyspondyly, Osteoporosis, Thin metacarpal cortices, Short stature, Vertebral compre... |
OMIM:616507 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... |
OMIM:271640 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... |
ORPHA:83468 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
| Developmental And Epileptic Encephalopathy 80 |
|
Long philtrum, High palate, Wide mouth, Smooth philtrum, Short distal phalanx of finger, Tented u... |
OMIM:618580 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Brachydactyly |
OMIM:612938 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Joint laxity, Pes planus, Short femoral neck, Flat capital femoral epiph... |
OMIM:612350 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Platyspondyly, Disproportionate short stature, Joint laxity, Metaphyseal ir... |
OMIM:602557 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Ankle swelling, Osteolysis invol... |
OMIM:166300 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cu... |
OMIM:151210 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis, Pes cavus |
OMIM:617087 |
| Boomerang Dysplasia |
|
Abnormality of tibia morphology, Abnormality of femur morphology, Severe short-limb dwarfism, Poo... |
ORPHA:1263 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Moderately short stature, Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of... |
ORPHA:157965 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Hip dysplasia, Genu valgum, Intervertebral disc degeneration, Abnormality of upper limb epiphysis... |
ORPHA:93311 |
| Osteogenesis Imperfecta, Type Iv |
|
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... |
OMIM:166220 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Dispr... |
OMIM:200700 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Short stature, Duplication of... |
OMIM:600384 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, Ky... |
ORPHA:35173 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Scoliosis, Short neck, Micrognathia, Kyphosis, Flexion contracture, Hyperextensibility at wrists,... |
ORPHA:75840 |
| Cantu Syndrome |
|
Short hallux, Platyspondyly, Osteoporosis, Erlenmeyer flask deformity of the femurs, Hypoplastic ... |
OMIM:239850 |
| Osteogenesis Imperfecta, Type Xiv |
|
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia,... |
OMIM:615066 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Short palm, Bowing of the legs, Antecubital pterygium, Short femoral neck, Equinova... |
ORPHA:2502 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short neck, Short middle phalanx of ... |
OMIM:211920 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Childhood-onset short-trunk short stature, Irregular vertebral endplates, Cervical... |
OMIM:184100 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... |
OMIM:212066 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormal ... |
ORPHA:2050 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis... |
OMIM:184253 |
| Achondroplasia |
|
Flat acetabular roof, Bowing of the legs, Narrow greater sciatic notch, Limited elbow extension, ... |
ORPHA:15 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Shor... |
OMIM:230650 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wormian bones, Wide anterior fontanel, Osteopenia, Obtuse angle of mandible, Abnormal foot morpho... |
ORPHA:85184 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Short stature, Intrauterine gr... |
ORPHA:50811 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... |
OMIM:201250 |
| Kleefstra Syndrome 1 |
|
Macroglossia, Everted lower lip vermilion, Natal tooth, Persistence of primary teeth, Protruding ... |
OMIM:610253 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Genu valgum, Hyperlordosis, Flared iliac wing, Kyphosis, Joint stiffness, Short statur... |
OMIM:252605 |
| Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Pes planus, Micrognathia, Elbow flexion contracture, Hyperlordosi... |
ORPHA:536516 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... |
ORPHA:250984 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Mandibular p... |
ORPHA:96334 |
| Hyaline Fibromatosis Syndrome |
|
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia |
OMIM:228600 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hip dysplasia, Rocker bottom foot, Scoliosis, Areflexia of lower limbs, Short neck, Arthrogryposi... |
OMIM:611890 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Finger syndactyly, Abnormality of epiphysis morphology, Malar flattening, Clinodacty... |
ORPHA:166024 |
| Perrault Syndrome 1 |
|
Scoliosis, Osteoporosis, Pes cavus, Short stature, Talipes equinovarus |
OMIM:233400 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental ... |
ORPHA:1798 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Long philtrum, Macroglossia, Dental crowding, High palate, Radial deviation of finger, Protruding... |
OMIM:141750 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Delayed eruption of teeth, Micrognathia, Postnatal growth retardation, Severe intra... |
ORPHA:73272 |
| Coxoauricular Syndrome |
|
Reduced bone mineral density, Short stature, Abnormality of femur morphology, Hip dislocation, Ab... |
ORPHA:1508 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Joint hypermobility, Kyphosis, Abnormal cortical bone morphology, Abnor... |
OMIM:300831 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wormian bones, Postaxial hand polydactyly, Sacrococcygeal terato... |
OMIM:269150 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border |
ORPHA:1446 |
| Bruck Syndrome 2 |
|
Wormian bones, Platyspondyly, Flexion contracture, Osteopenia, Pterygium, Increased susceptibilit... |
OMIM:609220 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all distal phalanges of the fingers, Scoliosis, Cervical spinal canal stenosis, Wid... |
OMIM:301900 |
| Frank-Ter Haar Syndrome |
|
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Cortical irregularity... |
OMIM:249420 |
| Smith-Mccort Dysplasia 2 |
|
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... |
OMIM:615222 |
| Down Syndrome |
|
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Short middle phalanx of the... |
OMIM:190685 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... |
ORPHA:89936 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... |
OMIM:256050 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Slender long bone, Reduced bone mineral density, Joint stiffness |
ORPHA:262 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue, Drooling |
OMIM:614325 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Disproport... |
OMIM:250420 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Protruding tongue, Wide mouth |
ORPHA:98795 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density, Delayed puberty, Short stature |
ORPHA:2410 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity |
OMIM:618323 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth, Short toe, Osteoporosis, Short metatarsal, Short fi... |
OMIM:103580 |
| Marshall-Smith Syndrome |
|
Protruding tongue, Bowing of the long bones, Open mouth, Gingival overgrowth |
ORPHA:561 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retarda... |
ORPHA:93324 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteoporosis, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, Increased bone ... |
OMIM:239000 |
| Osteogenesis Imperfecta, Type Xi |
|
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... |
OMIM:610968 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... |
OMIM:300431 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Everted lower lip vermilion, Abnormal thumb morphology, Smooth philtrum |
ORPHA:324410 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... |
OMIM:611717 |
| Heart Defects-Limb Shortening Syndrome |
|
Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with narrow diaphyses,... |
OMIM:608154 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Severe short stature |
OMIM:204730 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... |
OMIM:614326 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Pes planus, Sandal ... |
OMIM:245600 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis, Pes cavus |
OMIM:611225 |
| Desbuquois Dysplasia 2 |
|
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Joint laxity, Pes planus, Postnatal g... |
OMIM:615777 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short stature, Shor... |
OMIM:612462 |
| Angelman Syndrome Due To A Point Mutation |
|
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth |
ORPHA:411511 |
| Angelman Syndrome |
|
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth |
OMIM:105830 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Protruding tongue, Macroglossia, Malabsorption |
OMIM:242860 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Craniosynostosis, Overlapping toe, Osteopenia, Short metacarpal, Malar flattening,... |
OMIM:616723 |
| Pycnodysostosis |
|
Hyperlordosis, Wormian bones, Delayed eruption of teeth, Osteolysis, Abnormality of the vertebral... |
ORPHA:763 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Distal ulnar hypoplasia, Genu valgum, Scoliosis, Hypoplastic sacrum, Platyspondyly, Hypoplastic p... |
OMIM:304950 |
| Stüve-Wiedemann Syndrome |
|
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... |
ORPHA:3206 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Carious teeth, Phal... |
ORPHA:536467 |
| Gnathodiaphyseal Dysplasia |
|
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... |
OMIM:166260 |
| Raine Syndrome |
|
Enamel hypoplasia, Narrow mouth, Bowing of the long bones, Natal tooth, Wide mouth, Protruding to... |
OMIM:259775 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Bowing of the legs, Short stature |
OMIM:241510 |
| 19P13.3 Microduplication Syndrome |
|
Hip dysplasia, Osteoporosis, Hip subluxation, Growth delay, Clinodactyly, Pes cavus, Kyphoscolios... |
ORPHA:447980 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... |
ORPHA:85170 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Kyphosis, Lumbar hyperlordosis, Short stature, Talipes equinovarus, Hip dislocation |
OMIM:616756 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Micrognathia, Short foot, Short metacarpal, Short stature, Short toe, Brachydactyly,... |
OMIM:614078 |
| Three M Syndrome 1 |
|
Hyperlordosis, Joint hypermobility, Increased vertebral height, Short neck, Hypoplastic pelvis, P... |
OMIM:273750 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Neonatal sho... |
OMIM:183900 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of tibia morphology, Disproportionate short stature, Synostosis of carpal bones, Elbo... |
ORPHA:2634 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Pes cavus, Short stature, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Scoliosis, Disproportionate short stature, Stippled calcification proximal humeral epiphyses, Rhi... |
OMIM:222765 |
| Clark-Baraitser syndrome |
|
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... |
OMIM:300602 |
| Achondrogenesis Type 2 |
|
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... |
ORPHA:93296 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Bowing of the long bones, Short long bone, Talipes equinovarus, Micrognathia, Mala... |
OMIM:224410 |
| Burning Mouth Syndrome |
|
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... |
ORPHA:353253 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Coxa magna, Scoliosis, Short metatarsal, Short phalanx of finger, Short finger, Short metacarpal,... |
OMIM:190351 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Pseudoarthrosis, Short tibia, Neonatal short-l... |
OMIM:156230 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly, Syndactyly, Growth delay |
OMIM:616006 |
| 3M Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... |
ORPHA:2616 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck |
OMIM:300718 |
| Anauxetic Dysplasia 3 |
|
Genu valgum, Squared iliac bones, Hip subluxation, Platyspondyly, Wide anterior fontanel, Joint h... |
OMIM:618853 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Wide mouth, Gingival overgrowth |
OMIM:618797 |
| Sialidosis Type 2 |
|
Osteoporosis, Kyphosis, Pedal edema, Flexion contracture, Short stature |
ORPHA:87876 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... |
ORPHA:2831 |
| Icf Syndrome |
|
Protruding tongue, Macroglossia, Malabsorption |
ORPHA:2268 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Macroglossia, Widely-spaced maxillary central incisors, Radial deviation of finger, Protruding to... |
OMIM:301040 |
| Spondylo-Ocular Syndrome |
|
Osteoporosis, Platyspondyly, Thoracic kyphosis, Pes planus, Joint hyperflexibility, Disproportion... |
ORPHA:85194 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Micrognath... |
ORPHA:2496 |
| Arthrogryposis, Distal, Type 4 |
|
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... |
OMIM:609128 |
| Patterson Pseudoleprechaunism Syndrome |
|
Irregular acetabular roof, Genu valgum, Small cervical vertebral bodies, Joint swelling, Cervical... |
OMIM:169170 |
| Kniest Dysplasia |
|
Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage collagen, Short neck, Verteb... |
ORPHA:485 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Wormian bones, Dislocated radial head, Genu valgum, Short neck, Absent front... |
OMIM:102500 |
| Richieri Costa-Da Silva Syndrome |
|
Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, Decreased anteriopos... |
ORPHA:3101 |
| Rhyns Syndrome |
|
Abnormality of long bone morphology, Hypoplastic ilia, Small epiphyses, Osteopenia, Abnormal acet... |
ORPHA:140976 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Cleft palate, Glossoptosis, Oral synechia, Metatarsus valgus, Clinodacty... |
ORPHA:1388 |
| Gorham-Stout Disease |
|
Mandibular pain, Osteolysis, Abnormality of finger, Abnormal bone ossification, Patchy reduction ... |
ORPHA:73 |
| Multiple Osteochondromas |
|
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Synostosis of... |
ORPHA:321 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Osteoporosis, Mandibular prognathia, Recurrent fractures, Hyperextensibility of the finger joints... |
OMIM:309583 |
| Albers-Schönberg Osteopetrosis |
|
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Mandibular osteomyelitis, Genera... |
ORPHA:53 |
| Alpha-Mannosidosis |
|
Hip dysplasia, Scoliosis, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior i... |
ORPHA:61 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Massively thickened long bone cortices, Limb undergrowth, Short stature, Kyphoscoliosis, Brachyda... |
OMIM:122900 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Limb undergrowth, Coarse ... |
OMIM:618961 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteoporosis, Sclerotic cranial sutures, Broad metacarpals, Osteolysis, Abnormal form of the vert... |
ORPHA:371428 |
| Dysosteosclerosis |
|
Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to fractures, M... |
OMIM:224300 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs, Short stature |
OMIM:146350 |
| Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, S... |
ORPHA:2492 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... |
ORPHA:1972 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:2744 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Kyphosis, Recurrent fractures, Vertebral compression fracture |
ORPHA:85193 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Abnormal cortical bone ... |
ORPHA:1525 |
| Osteogenesis Imperfecta, Type Xix |
|
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Severe short stature, Ost... |
OMIM:301014 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Cole-Carpenter Syndrome 2 |
|
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Microretrognathia, Kyphosis, Narrow il... |
OMIM:616294 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis, Large hands, Short stature, Tapered finger |
ORPHA:276630 |
| Frank-Ter Haar Syndrome |
|
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Genu recurvatum, Beaki... |
ORPHA:137834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Mandibular prognathia, Kyphosis, Long foot, Arachnodactyly, Hypoplasia of the maxilla |
OMIM:300676 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Long philtrum, Gingival overgrowth |
OMIM:619179 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Widely spaced teeth, Protruding tongue, Drooling, Wide mouth |
ORPHA:98794 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Scoliosis, Genu valgum, Metaphyseal sclerosis, Osteoporosis, Bowing of the long bones, Postnatal ... |
OMIM:612199 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Auriculocondylar Syndrome 2 |
|
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... |
OMIM:614669 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Mandibular prognathia, Arachnodactyly, Joint laxity, Kyphosis |
OMIM:248760 |
| Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, Mandibular prognathia, Kyphosis, Sandal gap, Knee flexion contract... |
OMIM:619040 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Short stature, Genu va... |
OMIM:613312 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... |
ORPHA:93160 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... |
OMIM:311300 |
| Infantile Systemic Hyalinosis |
|
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Severe short stature, O... |
ORPHA:2176 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Limb undergrowth, Short long bone, Short neck, Brachydactyly |
ORPHA:221054 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Mandibular prognathia, Recurrent... |
ORPHA:2785 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Progressive pes... |
OMIM:300280 |
| Familial Hyperprolactinemia |
|
Osteoporosis, Osteopenia |
ORPHA:397685 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, 2-3 toe syndactyly, Brachydactyly, Clinodactyly, Micrognathia, Tapered finger |
OMIM:617061 |
| Zimmermann-Laband Syndrome 3 |
|
Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contracture, Aplasia of the distal phalan... |
OMIM:618658 |
| Joubert Syndrome 1 |
|
Macroglossia, Postaxial hand polydactyly, Protruding tongue, Clinodactyly, Postaxial foot polydac... |
OMIM:213300 |
| Nievergelt Syndrome |
|
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelic short stature, Radial head sublu... |
OMIM:163400 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal hip bone morphology, Short stature, Malar prominenc... |
ORPHA:2522 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Postnatal growth re... |
OMIM:618150 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Equinovarus deformity, Short neck, Micrognathia, Camptodactyly, Broad long bones, Bowing of the l... |
OMIM:224400 |
| Epiphyseal Dysplasia, Baumann Type |
|
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... |
OMIM:610797 |
| Brachyolmia Type 3 |
|
Scoliosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Childhood-onset short-trunk ... |
OMIM:113500 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Scoliosis, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger,... |
ORPHA:1883 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Camptodactyly of finger, Rocker bottom foot, Arthrogryposis multiplex con... |
OMIM:610758 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of ... |
ORPHA:3454 |
| Occipital Horn Syndrome |
|
Scoliosis, Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Hip... |
ORPHA:198 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Talipes, Micrognathia, Hypoplastic pubic bone, Severe short stature, Severe generalized osteoporo... |
OMIM:210730 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... |
OMIM:602875 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Short thumb |
OMIM:616540 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Overlapping fingers, Narrow mouth, Smooth philtrum, Thick vermilion border, Protruding tongue, Ad... |
OMIM:608779 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Abnormalit... |
ORPHA:3082 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... |
ORPHA:2916 |
| Atelosteogenesis Type I |
|
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Juvenile Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth |
ORPHA:93399 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Protruding tongue, Gingival overgrowth |
ORPHA:93400 |
| Schwartz-Jampel Syndrome |
|
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Pes planus, Incr... |
ORPHA:800 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Synostosis of carpal bones, Finger syndactyly, Shor... |
ORPHA:1005 |
| Orofaciodigital Syndrome V |
|
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... |
OMIM:174300 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis, Short stature |
OMIM:618625 |
