Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Thin skin, Flexion contracture, Tapered finger, Short femoral neck, Moderatel... |
ORPHA:157965 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Short finger, Ulnar deviatio... |
OMIM:222600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis,... |
OMIM:612350 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportiona... |
OMIM:156530 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Hip dislocation, Pseudoepiphyses of hand bones, Butterfly vertebrae, Short n... |
OMIM:613330 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... |
ORPHA:79106 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin, Coxa valga, Coxa vara, Avascular necrosis of the capital femoral epiphysis, Abnormalit... |
ORPHA:1899 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... |
OMIM:271530 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Dysspondyloenchondromatosis |
|
Genu valgum, Generalized joint laxity, Short stature, Vertebral segmentation defect, Multiple enc... |
ORPHA:85198 |
Brachyolmia Type 1, Toledo Type |
|
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... |
OMIM:271630 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Coxa valga, Hypoplastic ilia, Short stature, Vertebral wedging, Internal tibial torsi... |
OMIM:616583 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures |
ORPHA:57782 |
Acrogeria |
|
Thin skin, Small hand, Short stature, Micrognathia, Skin ulcer, Aplasia/Hypoplasia of the skin, S... |
ORPHA:2500 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Disproportionate short-limb short stature, Short h... |
OMIM:600121 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Amelogenesi... |
OMIM:618363 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o... |
OMIM:168400 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, Ir... |
OMIM:184252 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin, Arachnodactyly, Flexion contracture, Short stature, Atrophic scars, Lipodystrophy, Kyp... |
ORPHA:75496 |
Geroderma Osteodysplastica |
|
Thin skin, Biconcave vertebral bodies, Abnormal bone ossification, Recurrent fractures, Hernia, H... |
ORPHA:2078 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Short stature, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... |
ORPHA:93284 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Aplasia/hypoplasia involving bones of the extremities, Short neck, Dis... |
ORPHA:94068 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... |
ORPHA:2501 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... |
OMIM:250460 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... |
ORPHA:2114 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Hypoplastic ilia, Short stature, Hip dysplasia, Elbow flex... |
ORPHA:93359 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa valga, Micrognathia, Scarring, Hip dislocation, Femoral hernia, Avascular necrosis of the ca... |
ORPHA:1901 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Short stature, Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia o... |
OMIM:600384 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Short stature, Corner fractu... |
OMIM:184255 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Short stature, Joint laxity, Epiphyseal dysplasia, Kyphoscoliosis, Growth delay, Amelogenesis imp... |
OMIM:614727 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... |
OMIM:132400 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... |
ORPHA:536516 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Short stature, Hypermobility of interphalangeal joints, Broad hallux, Kyph... |
ORPHA:3433 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Papule, Progressive flexion contractures, Osteolysis, Abnormal diaphysis morphology, ... |
ORPHA:2028 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Lumbar scoliosis, Short stature, Lower limb undergrowth, Bowing of... |
OMIM:612847 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Proteus Syndrome |
|
Thin bony cortex, Multiple lipomas, Hypertrophy of skin of soles, Epidermal nevus, Spinal canal s... |
OMIM:176920 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, Talipes equinovarus, Camptodactyly, Adducted thumb, I... |
OMIM:618011 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hernia, Atrophic scars, Joint hypermobility, Kyphoscoliosis, Myopathy, Skeletal muscle atrophy, O... |
ORPHA:300179 |
Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Lumbar hyperlordosis, Shoulder gi... |
OMIM:610687 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Skeletal muscle hypertrophy, Fle... |
OMIM:255800 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Dermal atrophy, Macule, Type E brachydactyly, Aplasia/Hypoplasia of the skin |
ORPHA:1962 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilaginous skel... |
OMIM:215100 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Wrist flexion contracture, Distal lower limb amyotrophy, Calf muscle hypertrophy, Areflexia of lo... |
OMIM:616668 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Disproportionate short-trunk short s... |
ORPHA:99642 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... |
OMIM:600785 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures |
ORPHA:53697 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Thin skin, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to slow healing f... |
OMIM:112250 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Short stature, Micrognath... |
OMIM:147891 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Increased bone density with cystic changes, Increased bone mineral density, Kypho... |
OMIM:136300 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Kyphoscoliosi... |
ORPHA:96183 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Thin skin, Recurrent fractures, Abnormal pelvic girdle bone morphology, Mult... |
OMIM:166210 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Joint laxity, Type 1 collagen overmodification, Multiple prenatal fractures,... |
OMIM:610915 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Micrognathia, Irregular acetabular roof, Abnormal metaphysis morphology, Disproportionate short-t... |
ORPHA:93316 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Sh... |
OMIM:609324 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Fetal Encasement Syndrome |
|
Thin skin, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Ompha... |
OMIM:613630 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Nemaline Myopathy 4 |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... |
OMIM:609285 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger, Milia, Thin skin |
ORPHA:1658 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Pear-shaped vertebrae, Short femoral neck, Coxa vara, Decreased hip abduction, Rhizom... |
OMIM:183849 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Short metacarpal, Double-layered patella, Short stature, Hip dysplasia, Fl... |
OMIM:226900 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis... |
OMIM:114300 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, ... |
OMIM:614856 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Atrophic scars, Hi... |
OMIM:616471 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Flat capital femoral epiphysis, Camptodactyly, Generalized osteoporosis, Irregular acetabular roo... |
ORPHA:1159 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Richieri Costa-Da Silva Syndrome |
|
Genu valgum, Generalized bone demineralization, Decreased muscle mass, Diastasis recti, Short sta... |
ORPHA:3101 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Short stature, Pos... |
OMIM:617396 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... |
ORPHA:3344 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin, Hernia, Short stature, Inguinal hernia, Joint hyperflexibility, Umbilical hernia |
ORPHA:75497 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... |
ORPHA:40 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Short stature, Flex... |
OMIM:610758 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Hypoplasia of the radius, Abnormal trabecular bone morp... |
ORPHA:75508 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Micrognathia, Metacarpal osteolysis, Pes cavus, Thin... |
OMIM:259600 |
Periventricular Nodular Heterotopia |
|
Shoulder dislocation, Thin skin, Hernia, Patellar dislocation, Joint hypermobility, Scoliosis |
ORPHA:98892 |
Central Core Disease |
|
Multiple joint contractures, Central core regions in muscle fibers, Joint laxity, Pes planus, Typ... |
ORPHA:597 |
Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Broad metacarpals, Subcutaneous nodule, Carpal osteolysis, Os... |
OMIM:277950 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, S... |
OMIM:615349 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Thin skin, Cellulitis, Abnormality of skeletal muscle fiber size, Congestive heart failure, Lipod... |
ORPHA:2348 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Genu valgum, Short stature, Firm muscles, Vertebral wedging, Kyphoscoliosis, Skeletal muscle hype... |
OMIM:255710 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Webbed neck, Short ribs, Micrognathia, Short femur, Adduct... |
OMIM:616897 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Increased susceptibility to fractures, Dentinogenesis imperfecta, Biconcave ... |
OMIM:610968 |
Roussy-Lévy Syndrome |
|
Genu valgum, Lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Intrinsic hand muscle atrophy... |
ORPHA:3115 |
Whistling Face Syndrome, Recessive Form |
|
Knee flexion contracture, Micrognathia, Elbow flexion contracture, Ulnar deviation of finger, Cam... |
OMIM:277720 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb |
OMIM:618453 |
Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Flexion contracture, Intervertebral space narrowing, Rhizomelia, Short metacarpal, I... |
ORPHA:263463 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... |
OMIM:600175 |
Mandibuloacral Dysplasia |
|
Thin skin, Contractures of the large joints, Acroosteolysis of distal phalanges (feet), Micrognat... |
ORPHA:2457 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... |
ORPHA:56304 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... |
OMIM:601559 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Minim... |
ORPHA:280365 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Peg-like central prominence of distal tibial metaphyses, Broad foot, Flexion contracture, Coxa va... |
OMIM:300232 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Micrognathia, Elbow flexio... |
OMIM:121050 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short stature, Elbow flexion... |
ORPHA:93333 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin, Bowing of limbs due to multiple fractures, Multiple prenatal fractures, Decreased calv... |
OMIM:259410 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Thoracolumbar scoliosis, T... |
ORPHA:230851 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Scholte Syndrome |
|
Patellar hypoplasia, Small hand, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Short foot,... |
OMIM:300977 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Thin skin, Atrophic scars, Joint laxity, Inguinal hernia, Calcaneovalgus deformity, Pes planus, G... |
OMIM:225320 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Thin skin, Wide anterior fontanel, Short stat... |
OMIM:201170 |
Monosomy 5P |
|
Finger syndactyly, Small hand, Recurrent fractures, Short stature, Microretrognathia, Inguinal he... |
ORPHA:281 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short femur, Limited ... |
OMIM:100800 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Generalized joint laxity... |
OMIM:609325 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Thin skin, Striae distensae, Mitral valve prolapse, Joint laxity, Atypical scarring of skin |
OMIM:225310 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thoracolumbar scoliosis, 2-3 toe syndactyly, Short toe, Flexion contracture of digit, Patellar hy... |
ORPHA:3041 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Multiple joint contractures, Micrognathia, Atlantoaxial dislocation, Congenital ky... |
ORPHA:536467 |
Familial Cervical Artery Dissection |
|
Thin skin, Abnormality of connective tissue, Striae distensae, Cerebral ischemia, Transient ische... |
ORPHA:36382 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Thin skin, Craniosynostosis, Slender long bone, Joint hype... |
ORPHA:561 |
Silver-Russell Syndrome 2 |
|
2-3 toe syndactyly, Thin skin, Short stature, Micrognathia, Clinodactyly of the 5th finger, Intra... |
OMIM:618905 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Fatty replacement of skeletal muscle, Achilles tendon contracture, Congenital muscular dystrophy,... |
ORPHA:370980 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, S... |
OMIM:613848 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Femoral bowing, Short femur, Osteosclerosis of the ulna, O... |
OMIM:602080 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Femoral bowing, D... |
ORPHA:93356 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin, Mitral valve prolapse, Joint hypermobility, Skeletal muscle atrophy, Joint hyperflexib... |
ORPHA:230839 |
Pparg-Related Familial Partial Lipodystrophy |
|
Thin skin, Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertension, Hyp... |
ORPHA:79083 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Multiple joint contractures, Hallux valgus, Patellar dislocation, Micrognath... |
ORPHA:536471 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... |
ORPHA:166011 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Upper limb amyotrophy, Kyphoscoliosis, Proximal muscle weakness in uppe... |
ORPHA:496689 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Talipes e... |
ORPHA:65759 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Thin skin, Abnormal fingertip morphology, Acroosteolysis of distal phalanges (fee... |
ORPHA:90154 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Wide anterior fontanel, Kyphosis, Micromelia, Short femur, Femoral bowing, Plat... |
ORPHA:1860 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Ankle clonus, Short stature, Lower limb muscle weakness, Clinodactyly, Campt... |
OMIM:275900 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Kyphosis, Short stature, Delayed ossification of carpal bones, Inguinal herni... |
OMIM:618392 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Ivic Syndrome |
|
Triphalangeal thumb, Pectoralis major hypoplasia, Absent thumb, Upper limb undergrowth, Limited e... |
OMIM:147750 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Severe short stature... |
OMIM:112350 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin, 2-3 toe cutaneous syndactyly, Broad thumb, Scoliosis, Deep plantar creases |
OMIM:617364 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Protrusio acetabuli, Increased susceptibility to fractures, Hip contrac... |
OMIM:259450 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Avascular necrosis of the capital femoral epiphysis, Childhood-ons... |
OMIM:184100 |
Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... |
OMIM:146000 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Premature Aging Syndrome, Penttinen Type |
|
Dermal atrophy, Thin skin, Lipoatrophy, Short foot, Recurrent fractures, Keloids, Slender long bo... |
OMIM:601812 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy |
OMIM:271200 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Short ribs, Elbow flexion con... |
ORPHA:1145 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Abnormal dental enamel morphology, Dermal atrophy, Short... |
ORPHA:2092 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Dentinogenesis imperfecta, Mesomelic... |
OMIM:184260 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Triphalangeal thumb, Short thumb, Aplasia cutis congenita, Pes planus |
ORPHA:79499 |
Joubert Syndrome 18 |
|
Talipes equinovarus, Camptodactyly, Joint laxity, Kyphoscoliosis, Trident pelvis, Bowing of the l... |
OMIM:614815 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Lumbar hyperlo... |
OMIM:608728 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Thin skin, Short stature, Talipes equinovarus, Hip dislocation, Joint hypermobility, Adducted thu... |
OMIM:219150 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short stature, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Halberd-shaped pelvis, Clino... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,... |
OMIM:608940 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Hallux valgus, Kyphosis, Atro... |
OMIM:130060 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Coxa valga, Joint contracture of the hand, Microgn... |
OMIM:214150 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Short neck, Limb undergro... |
OMIM:108720 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Thin skin, Recurrent fractures,... |
OMIM:166200 |
Warburg Micro Syndrome 1 |
|
Short stature, Micrognathia, Joint hypermobility, Overlapping toe, Kyphoscoliosis, Osteoporosis |
OMIM:600118 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly |
OMIM:612913 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy, Type E brachydactyly |
OMIM:133690 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Flexion co... |
OMIM:607855 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, L... |
OMIM:118220 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Short neck, Abnormal cartilage collagen, Flattened, s... |
OMIM:156550 |
Congenital Myopathy 13 |
|
Flexion contracture, Fatty replacement of skeletal muscle, Short stature, Micrognathia, Kyphoscol... |
OMIM:255995 |
Charcot-Marie-Tooth Disease Type 4D |
|
Skewfoot, Upper limb amyotrophy, Abnormal foot morphology, Pes cavus, Kyphoscoliosis, Split hand,... |
ORPHA:99950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Patellar dislocation, Abnormally ossified vertebrae, Neuropathic spinal arth... |
ORPHA:35173 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Flat capital femoral epiphysis, Metaphyseal striations, Lumbar interpedicular narrowing, Limited ... |
OMIM:271510 |
King-Denborough Syndrome |
|
Webbed neck, Muscle fiber atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Tho... |
OMIM:619542 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Melanocytic nevus, Short stature, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Delayed pu... |
OMIM:612079 |
Leukodystrophy, Hypomyelinating, 17 |
|
Kyphoscoliosis, Flexion contracture, Growth delay |
OMIM:618006 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Genu valgum, Thin skin, Metaphyseal sclerosis, Short femor... |
OMIM:612199 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... |
OMIM:277300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossification, Recurrent fractures,... |
OMIM:600081 |
Buschke-Ollendorff Syndrome |
|
Diffuse skin atrophy, Flexion contracture, Recurrent fractures, Connective tissue nevi, Cutaneous... |
ORPHA:1306 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis |
OMIM:236660 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Ck Syndrome |
|
Microretrognathia, Joint hypermobility, Kyphoscoliosis, Long toe, Long fingers, Lumbar hyperlordosis |
ORPHA:251383 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... |
OMIM:614078 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, T... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Kyphoscoliosis, Split hand, Talipes equinovarus |
OMIM:607831 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Pes cavus, Distal amyotrophy, Kyphoscoliosis, Hammertoe |
OMIM:180800 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... |
OMIM:609813 |
Prolidase Deficiency |
|
Thin skin, Genu valgum, Micrognathia, Skin ulcer, Papule, Palmoplantar keratoderma, Aplasia/Hypop... |
ORPHA:742 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin skin, Micrognathia, Skin dimple, Lipoatrophy, Intrauterine growth retardation |
ORPHA:261304 |
Short Syndrome |
|
Thin skin, Birth length less than 3rd percentile, Enlarged epiphyses, Slender long bone, Microgna... |
OMIM:269880 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dermal atrophy, Thin skin, Flexion contracture, Acroosteolysis of distal phalanges (feet), Short ... |
ORPHA:90153 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Camptodactyly, Absent sternal ossification, Flat g... |
OMIM:224690 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Micromelia, Li... |
OMIM:211350 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Pes cavus, Kyphoscoliosis, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, L... |
OMIM:118200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Premature osteoarthritis, Short neck, Limb undergrowth, Delayed epiphy... |
ORPHA:93352 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Postnatal growth retardation, Talip... |
OMIM:611209 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... |
OMIM:313420 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short neck, Slende... |
ORPHA:75840 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... |
OMIM:313400 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Short femur, Scoliosis, Omphalocele, Amelia |
OMIM:601357 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Pseudoprogeria Syndrome |
|
Thin skin, Joint stiffness, Growth delay, Short stature |
ORPHA:2985 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Pes cavus, Kyphoscoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness |
OMIM:605588 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Dislocated radial... |
OMIM:617425 |
Arthrogryposis, Distal, Type 2A |
|
Wrist flexion contracture, Elbow flexion contracture, Camptodactyly, Hip dislocation, Spina bifid... |
OMIM:193700 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Joint contracture |
OMIM:617977 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Short stature, Increased bone mineral density... |
ORPHA:1782 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Metaphyseal cupping, Pear-shaped vertebrae, Coxa vara,... |
OMIM:602111 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... |
OMIM:143095 |
De Barsy Syndrome |
|
Talipes calcaneovalgus, Thin skin, Decreased muscle mass, Generalized joint laxity, Coxa vara, Sh... |
ORPHA:2962 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Thin skin, Striae distensae, Kyphosis, Skeletal muscle atrophy, Osteopenia, Osteoporosis |
OMIM:219080 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint cont... |
OMIM:113000 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin skin, Flexion contracture, Elbow flexion contracture, Hip dislocation, Inguinal hernia, Oste... |
OMIM:614438 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Kyphoscoliosis, Long foot, Scoliosis |
OMIM:300844 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Nevus sebaceous, Recurrent fractures, Abnormal finger morphology, Short stature, Abnormal toe mor... |
OMIM:163200 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Generalized amyotrophy, Kyphoscoliosis, Scoliosis, Split hand, Limb muscle weakness, Facial palsy |
OMIM:614707 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Slender toe, Clinodactyly, Joint laxity, Down-sloping shoulders, Dorsocervical fat ... |
ORPHA:391408 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
Osteogenesis Imperfecta, Type Xiv |
|
Increased susceptibility to fractures, Recurrent fractures, Short stature, Femoral bowing, Osteop... |
OMIM:615066 |
Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Osteopenia, Long toe, Arachnodactyly, Long fingers, Po... |
OMIM:619489 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Thin skin, Kyphosis, Short stature, Clinodactyly of the 5th finger, Camptodactyly, Joint hypermob... |
OMIM:617602 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Pes cavus, Abnormal toe morphology, Kyph... |
ORPHA:459033 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Kyphoscoliosis, Hallux valgus, Short stature |
OMIM:615541 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Ovoid vertebral bodies, Limi... |
OMIM:618019 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Knee flexion contracture, Hypoplastic pubic bone, Hip contracture, Minimal subcutaneous fat, Slen... |
OMIM:210730 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu... |
OMIM:609220 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Thin skin, Palmoplantar cutis laxa, Generalized joint laxity, Atrophic scars, Joint laxity, Ingui... |
OMIM:130080 |
Joint Laxity, Short Stature, And Myopia |
|
Short stature, Cervical kyphosis, Talipes equinovarus, Joint hypermobility, Inguinal hernia, Kyph... |
OMIM:617662 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Delayed epiphyseal ossification, Recurrent fractures,... |
OMIM:241530 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormal foot morphology, Skin ulcer, Osteolysis, Abnormal diaphysis morphology, Aplasia/Hypoplas... |
ORPHA:1657 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis, Pes planus |
OMIM:146720 |
Bruck Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Arthrogryposis multiplex congenita, Scoliosis, Plat... |
ORPHA:2771 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,... |
ORPHA:1423 |
Acrootoocular Syndrome |
|
Short toe, Short metacarpal, Short stature, Grayish enamel, Micrognathia, Hyperpigmented nevi, Sh... |
ORPHA:2980 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short stature, Short long bone, ... |
ORPHA:93296 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Growth delay, Intrauterine growth retardat... |
OMIM:610756 |
Rahman Syndrome |
|
Kyphoscoliosis, Camptodactyly, Talipes equinovarus, Nevus |
OMIM:617537 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Thoracic kyphosis, Femo... |
OMIM:619638 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:743 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Pes cavus, Kyphoscoliosis, Scoliosis, Split hand, Hammertoe, Distal lower limb muscle weakness, D... |
OMIM:145900 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Micrognathia, Hip dislocation, Congenital kyphoscoliosis, Knee dislocation,... |
ORPHA:536545 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Charcot-Marie-Tooth Disease Type 1A |
|
Pes cavus, Kyphoscoliosis, Skeletal muscle atrophy, Calf muscle hypertrophy |
ORPHA:101081 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Small hand, Short foot, Short metacarpal, Kyphosis, Short stature, Micro... |
OMIM:180870 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Tapered finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Pes planus, Adducted thum... |
OMIM:272430 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Hypoplastic cervical verte... |
ORPHA:628 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Thin skin, Aplasia/Hypoplasia of the skin |
ORPHA:745 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, R... |
OMIM:264700 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Thin skin, Striae distensae, Kyphosis, Osteopenia, Osteoporosis |
OMIM:610475 |
Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Knee flexion contracture, Enamel hypoplasia, Thin skin, Hyperext... |
OMIM:151050 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Dispropo... |
ORPHA:93315 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Sponastrime Dysplasia |
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Hip subluxation, Broad foot, Flat capital femoral epiphysis, Hip dislocation, Ivory epiphyses of ... |
ORPHA:93357 |
Glass Syndrome |
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Thin skin, Anterior tibial bowing, Short stature, Micrognathia, Camptodactyly, Inguinal hernia, G... |
OMIM:612313 |
Autosomal Recessive Hypophosphatemic Rickets |
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Genu varum, Coxa vara, Short stature, Rickets of the lower limbs, Abnormal trabecular bone morpho... |
ORPHA:289176 |
19P13.3 Microduplication Syndrome |
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Hip subluxation, Hip dysplasia, Micrognathia, Clinodactyly, Hip dislocation, Pes cavus, Kyphoscol... |
ORPHA:447980 |
Body Mass Index Quantitative Trait Locus 20 |
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Increased bone mineral density |
OMIM:618406 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Knee dislocation, Sacral dimp... |
ORPHA:536532 |
Axial Spondylometaphyseal Dysplasia |
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Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, N... |
ORPHA:168549 |
Campomelic Dysplasia |
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Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Tracheomalacia, Metatarsus... |
OMIM:114290 |
Paternal Uniparental Disomy Of Chromosome 5 |
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Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis, Abnormal fibular epiphysis morphology |
ORPHA:96190 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Larsen-Like Syndrome |
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Wide anterior fontanel, Short stature, Clinodactyly of the 5th finger, Joint laxity, Bipartite ca... |
OMIM:608545 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Wrist flexion contracture, Flexion contracture, Small hand, Micrognathia, Pes cavus, Kyphoscolios... |
OMIM:300055 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Micrognathia, Delayed o... |
ORPHA:93346 |
Langer Mesomelic Dysplasia |
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Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
Osteogenesis Imperfecta, Type Xxii |
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Thin bony cortex, Dentinogenesis imperfecta, Pseudoarthrosis, Recurrent fractures, Short stature,... |
OMIM:619795 |
Dysosteosclerosis |
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Short diaphyses, Micrognathia, Sclerotic scapulae, Hypoplastic vertebral bodies, Facial paralysis... |
OMIM:224300 |
Stuve-Wiedemann Syndrome 2 |
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Short long bone, Camptodactyly, Scoliosis, Bowing of the long bones, Intrauterine growth retardation |
OMIM:619751 |
19Q13.11 Microdeletion Syndrome |
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Thin skin, Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Aplasia cutis conge... |
ORPHA:217346 |
Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Recurrent fractures, Kyphosis, Short stature, Toe syndactyly, Micrognath... |
ORPHA:3409 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short phalanx of finger, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short neck, A... |
OMIM:611717 |
Kniest Dysplasia |
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Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, Delayed patellar ossification... |
ORPHA:485 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed epiphyseal ossificat... |
ORPHA:289157 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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Clinodactyly, Camptodactyly, Macroglossia, Kyphoscoliosis, Scoliosis, Brachydactyly, Talipes equi... |
OMIM:616354 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... |
OMIM:607143 |
Robinow Syndrome, Autosomal Dominant 2 |
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Sacral dimple, Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Short statur... |
OMIM:616331 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal irregularity, Irregular vertebral endplates, Metaphyseal sclerosis, Increased interve... |
OMIM:607944 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Patellar dislocation, Rhizomelia, Epiphyseal stippling, Hemiatrophy, Abnormal pelvic girdle bone ... |
OMIM:302960 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Hyperlordosis, Increased vertebral height, Short stature, Micrognathia, Abnormal vertebral morpho... |
OMIM:616817 |
13Q12.3 Microdeletion Syndrome |
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Short stature, Hip dysplasia, Camptodactyly, Congenital diaphragmatic hernia, Kyphoscoliosis, Hem... |
ORPHA:412035 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... |
OMIM:618961 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Adams-Oliver Syndrome 3 |
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Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Aplasia cutis congenita, Absent toe, Short d... |
OMIM:614814 |
Frank-Ter Haar Syndrome |
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Short phalanx of finger, Micrognathia, Camptodactyly, Metatarsus adductus, Bilateral talipes equi... |
OMIM:249420 |
Hyperparathyroidism, Transient Neonatal |
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Recurrent fractures, Short long bone, Short ribs, Femoral bowing, Short femur, Inguinal hernia, F... |
OMIM:618188 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Dent Disease 1 |
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Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300009 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Flexion contracture, Webbed neck, Kyphosis, Clinodactyly, Short neck, Minicore myopathy, Scoliosi... |
ORPHA:178148 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu ... |
OMIM:250420 |
Adams-Oliver Syndrome 4 |
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Aplasia of the distal phalanges of the toes, Short toe, Aplasia cutis congenita, Aplasia of the m... |
OMIM:615297 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Pate... |
OMIM:618395 |
Dyggve-Melchior-Clausen Disease |
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Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
Arthrogryposis, Distal, Type 4 |
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Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... |
OMIM:609128 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Lumbar hyperlor... |
OMIM:602557 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Short stature, Large tarsal b... |
OMIM:215150 |
Danon Disease |
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Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Short phalanx of finger, Micrognathia, Short neck, Postaxial hand polydactyly, Short toe, Phalang... |
OMIM:266920 |
Pituitary Adenoma 4, Acth-Secreting |
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Thin skin, Biconcave vertebral bodies, Striae distensae, Kyphosis, Skeletal muscle atrophy, Verte... |
OMIM:219090 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Protrusio acetabuli, Thin skin, Palmoplantar cutis laxa, Progressive congenital scoliosis, Joint ... |
OMIM:225400 |
Osteogenesis Imperfecta, Type Ix |
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Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
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Thin skin, Tapered finger, Prominent crus of helix, Cafe-au-lait spot, Joint hypermobility, Broad... |
OMIM:617804 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
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Dermal atrophy, Thin skin, Abnormality of the knee, Milia, Palmoplantar hyperkeratosis, Abnormali... |
ORPHA:158673 |
Congenital Contractural Arachnodactyly |
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Camptodactyly of finger, Flexion contracture, Congenital kyphoscoliosis, Scoliosis, Arachnodactyl... |
ORPHA:115 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Short stature, Pes cavus, Kyphoscoliosis, Acute rhabdomyolysis, Split hand, Talipes equinovarus, ... |
OMIM:604168 |
Calvarial Doughnut Lesions With Bone Fragility |
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Recurrent fractures, Femoral bowing, Severe short stature, Osteopenia, Scoliosis, Platyspondyly, ... |
OMIM:126550 |
Myopathy, Myofibrillar, 1 |
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Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... |
OMIM:601419 |
Coffin-Siris Syndrome 6 |
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Short stature, Diaphragmatic eventration, Micrognathia, Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:617808 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Dumbbell-shaped long bone, Severe platyspondyly, Short neck, Ovoid vertebral bodies, Limb undergr... |
OMIM:151210 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Thin skin, Recurrent fractures, Multiple cafe-au-lait spots, Subcutaneous nodule, Scoliosis, Abno... |
ORPHA:457059 |
Chronic Atrial And Intestinal Dysrhythmia |
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Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Biconcave vertebral bodies, Limitation of joint mobility, Inguinal hernia, Generalized osteoporos... |
OMIM:236200 |
Rhizomelic Syndrome, Urbach Type |
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Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... |
ORPHA:3098 |
Catel-Manzke Syndrome |
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Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Clino... |
OMIM:616145 |
Achondroplasia |
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Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension, Narrow greater sciat... |
ORPHA:15 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Genu valgum, Metaphyseal sclerosis, Palmoplantar cutis laxa, Flat acetabular roof, Abnormal limb ... |
ORPHA:2976 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Thin skin, Striae distensae, Kyphosis, Osteopenia, Osteoporosis |
OMIM:610489 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Thin bony cortex, Decreased muscle mass, Webbed neck, Recurrent fractures, Hyperextensibility of ... |
OMIM:309583 |
Long Qt Syndrome 15 |
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Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Sinoatrial Node Dysfunction And Deafness |
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Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Centrally nucleated skeletal muscle fibers, Areflexia of lower limbs, Triceps weakness, Clubbing ... |
OMIM:619574 |
Acromesomelic Dysplasia 2C |
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Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Arterial Tortuosity Syndrome |
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Thin skin, Femoral hernia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa ... |
ORPHA:3342 |
Primary Pigmented Nodular Adrenocortical Disease |
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Increased susceptibility to fractures, Thin skin, Striae distensae, Abnormal subcutaneous fat tis... |
ORPHA:189439 |
Czech Dysplasia |
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Short toe, Intervertebral space narrowing, Flexion contracture, Irregular vertebral endplates, Sh... |
OMIM:609162 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Short neck, Postaxia... |
OMIM:304120 |
Osteogenesis Imperfecta, Type Iii |
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Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Biconc... |
OMIM:259420 |
Foxg1 Syndrome |
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Severe postnatal growth retardation, Kyphoscoliosis, Scoliosis, Short stature |
ORPHA:561854 |
Atrophoderma Vermiculata |
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Hyperkeratotic papule, Atrophic scars, Skin pit, Heart block, Hypoplastic pilosebaceous units, Pe... |
ORPHA:79100 |
Osteoporosis-Pseudoglioma Syndrome |
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Increased susceptibility to fractures, Biconcave vertebral bodies, Recurrent fractures, Severe pl... |
OMIM:259770 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
Mucopolysaccharidosis, Type Vi |
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Hypoplastic acetabulae, Flexion contracture, Flared iliac wing, Anterior wedging of L2, Ovoid ver... |
OMIM:253200 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Short stature, Hip dislocation, Kyphoscoliosis, Limb undergrowth, Osteopenia, Joint contracture, ... |
OMIM:618005 |
Attrv122I Amyloidosis |
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Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Atrial Fibrillation, Familial, 10 |
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Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Dermoodontodysplasia |
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Thin skin, Melanocytic nevus |
ORPHA:1660 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
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Kyphoscoliosis |
OMIM:117850 |
Bent Bone Dysplasia Syndrome 2 |
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Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Webbed neck, Short 1s... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Short stature, Narrow pelvis bone,... |
OMIM:616723 |
Autosomal Recessive Spastic Paraplegia Type 23 |
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Kyphoscoliosis, Hip dislocation, Multiple lentigines, Short stature |
ORPHA:101003 |
Desbuquois Dysplasia 2 |
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Short phalanx of finger, Broad foot, Advanced ossification of carpal bones, Coxa valga, Hip dislo... |
OMIM:615777 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of joint mobil... |
ORPHA:3454 |
Otopalatodigital Syndrome, Type I |
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Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Toe syndactyly, Hip d... |
OMIM:311300 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Neonatal short-limb short stature, Advanced ossification of carpal bones, Joint contracture of th... |
OMIM:224400 |
Arthrogryposis Multiplex Congenita 5 |
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11 pairs of ribs, Flexion contracture, Micrognathia, Elbow flexion contracture, Talipes equinovar... |
OMIM:618947 |
Arterial Tortuosity Syndrome |
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Thin skin, Flexion contracture, Micrognathia, Joint laxity, Inguinal hernia, Congenital diaphragm... |
OMIM:208050 |
Acrorenal-Mandibular Syndrome |
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Abnormal sacral segmentation, Toe syndactyly, Foot polydactyly, Hypoplasia of the radius, Elbow f... |
OMIM:200980 |
Fixed Subaortic Stenosis |
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Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Kyphoscoliosis, Back pain, Localized osteoporosis, Cervical spondylosis |
ORPHA:199354 |
Coronary Arterial Fistula |
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Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Atrial Fibrillation, Familial, 18 |
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Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Charcot-Marie-Tooth Disease, Type 4A |
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Distal amyotrophy, Kyphoscoliosis, Hammertoe |
OMIM:214400 |
Anauxetic Dysplasia 3 |
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Hip subluxation, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short metacarpal, Broa... |
OMIM:618853 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Flexion contracture, Coxa valga, Acroosteolysis of distal phalanges (feet), Reduced subcutaneous ... |
OMIM:248370 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Knee flexion contracture, Tapered finger, Hip contracture, Small hand, Short stature, Clinodactyl... |
ORPHA:488642 |
Allan-Herndon-Dudley Syndrome |
|