{"Name":"Spondyloepiphyseal dysplasia with metatarsal shortening","DiseaseID__c":"GARD:0010220","id":10220,"encodedName":"spondyloepiphyseal-dysplasia-with-metatarsal-shortening","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepiphyseal dysplasia with metatarsal shortening","Xref_IDs__c":"720826006; C1836683; C535766; MEDGEN:324580; MONDO:0012206; OMIM:609162; ORPHA:137678","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012206","Disease_Description__c":"A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.","GARD_Name__c":"Spondyloepiphyseal dysplasia with metatarsal shortening","GARD_Synonym__c":"czech dysplasia; czech dysplasia metatarsal type; czech dysplasia, metatarsal type; pseudorheumatoid dysplasia progressive, with hypoplastic toes; pseudorheumatoid dysplasia, progressive, with hypoplastic toes; sed with metatarsal shortening; spondyloepiphyseal dysplasia with precocious osteoarthritis","Curated_Disease_Description_Source__c":"MONDO:0012206","Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. People with this condition have joint pain that begins in late childhood or adolescence. The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair their mobility. Due to these severe joint problems, people with SED with metatarsal shortening may require joint replacement in early adulthood. People with SED with metatarsal shortening often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in the space between the vertebrae, or an abnormal curvature of the spine. Some people with SED with metatarsal shortening have progressive hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:137678","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012206","ORPHANET_ID__c":"ORPHA:137678","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepifisaria con acortamiento metatarsiano","Spanish_Description_Source__c":"ORPHA:137678","Spanish_Description__c":"Es una displasia ósea primaria, de origen genético poco frecuente, caracterizada por el inicio temprano de artritis pseudorreumatoide progresiva, platispondilia e hipoplasia/displasia del tercer y cuarto metatarsianos en ausencia de afectación oftalmológica, paladar hendido y anomalías de la talla.","Spanish_Disease_Name__c":"displasia espondiloepifisaria con acortamiento metatarsiano","Spanish_GARD_Synonym__c":"displasia checa, tipo metatarsiano","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. People with this condition have joint pain that begins in late childhood or adolescence. The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair their mobility. Due to these severe joint problems, people with SED with metatarsal shortening may require joint replacement in early adulthood. People with SED with metatarsal shortening often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in the space between the vertebrae, or an abnormal curvature of the spine. Some people with SED with metatarsal shortening have progressive hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0012206","GARD_Synonym__c":"czech dysplasia; czech dysplasia metatarsal type; czech dysplasia, metatarsal type; pseudorheumatoid dysplasia progressive, with hypoplastic toes; pseudorheumatoid dysplasia, progressive, with hypoplastic toes; sed with metatarsal shortening; spondyloepiphyseal dysplasia with precocious osteoarthritis","Name":"Spondyloepiphyseal dysplasia with metatarsal shortening","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:137678"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:137678"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836683"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010220","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535766","Source__c":"MONDO:0012206","Xref__c":"C535766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720826006","Source__c":"C1836683; MONDO:0012206","Xref__c":"720826006"},{"URL__c":"https://www.orpha.net/en/disease/detail/137678","Source__c":"C1836683; MONDO:0012206; ORPHA:137678","Xref__c":"ORPHA:137678"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836683","Source__c":"C1836683","Xref__c":"C1836683"},{"URL__c":"https://www.omim.org/entry/609162","Source__c":"C1836683; MONDO:0012206; ORPHA:137678","Xref__c":"OMIM:609162"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324580","Source__c":"C1836683","Xref__c":"MEDGEN:324580"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012206","Source__c":"GARD:0010220","Xref__c":"MONDO:0012206"},{"URL__c":"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening","Source__c":"GARD:0010220","Xref__c":"https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"Decreased height of the intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002945","HPO_Synonym__c":"Narrow intervertebral disk spaces; Narrow intervertebral spaces","HPO_Name__c":"Intervertebral space narrowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002868","HPO_Synonym__c":"Narrow iliac wings","HPO_Name__c":"Narrow iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030431","HPO_Synonym__c":"Osteocartilaginous exostoses; Osteochondromas","HPO_Name__c":"Osteochondroma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003301","HPO_Synonym__c":"end-plate irregularities; endplate irregularities; endplate irregularity; Irregular end plates; Irregular endplates; irregular vertebral plates; vertebral endplate irregularity","HPO_Name__c":"Irregular vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"Over curvature of the thoracic region, leading to a round back or if sever to a hump.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002942","HPO_Synonym__c":"Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis","HPO_Name__c":"Thoracic kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"An abnormal flattening of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003370","HPO_Synonym__c":"Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses","HPO_Name__c":"Flat capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008819","HPO_Synonym__c":"Narrow neck of thigh bone","HPO_Name__c":"Narrow femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609162","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["czech dysplasia"," czech dysplasia metatarsal type"," czech dysplasia, metatarsal type"," pseudorheumatoid dysplasia progressive, with hypoplastic toes"," pseudorheumatoid dysplasia, progressive, with hypoplastic toes"," sed with metatarsal shortening"," spondyloepiphyseal dysplasia with precocious osteoarthritis"]}