{"Name":"Spondyloepimetaphyseal dysplasia, Strudwick type","DiseaseID__c":"GARD:0000134","id":134,"encodedName":"spondyloepimetaphyseal-dysplasia-strudwick-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, Strudwick type","Xref_IDs__c":"702350003; C0700635; DOID:0080028; MEDGEN:147134; MONDO:0008476; OMIM:184250; ORPHA:93346","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008476","Disease_Description__c":"Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, Strudwick type","GARD_Synonym__c":"dappled metaphysis syndrome; semd - spondyloepimetaphyseal dysplasia, strudwick type; semdstwk; spondyloepimetaphyseal dysplasia congenita, strudwick type; strudwick syndrome","Curated_Disease_Description_Source__c":"MONDO:0008476","Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED) with marked metaphyseal changes is a group of rare skeletal disorders. People with SED with marked metaphyseal changes have abnormalities of the spine (spondylo-) and the regions near the ends (metaphyses) and at the ends (epiphyses) of the long bones in the arms and legs. The severity of the signs and symptoms can vary from person to person. People with SED with marked metaphyseal changes may have a short torso, shortened arms and legs, and flattened bones of the spine (platyspondyly), which all lead to short stature. People with SED with marked metaphyseal changes may develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck can cause these bones to shift, which increases the risk of damage to the spinal cord.  Other features of SED with marked metaphyseal changes may include legs that curve outward or inward (valgus or varus deformity) and irregular bone formation (ossification) in the long bones. Changes in the position of the thigh bone where it meets the hip joint can cause difficulty walking.  Affected individuals may also have joint pain, swollen joints, and joint deformities (contractures). Arthritis may develop early in life. The conditions that make up SED with marked metaphyseal changes were once thought to be distinct disorders, but they are now considered to be part of the same disease spectrum. These conditions include spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-S); spondylometaphyseal dysplasia, Algerian type (SMD-A); spondyloepiphyseal dysplasia, Stanescu type (SED-S); some cases of spondylometaphyseal dysplasia, corner fracture type (SMDCF); and dysspondyloenchondromatosis (DSC).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93346","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008476","ORPHANET_ID__c":"ORPHA:93346","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria tipo strudwick","Spanish_Description_Source__c":"ORPHA:93346","Spanish_Description__c":"La displasia espondiloepimetafisaria congénita, tipo Strudwick, se caracteriza por una talla baja desproporcionada desde el nacimiento (con un tronco y extremidades muy cortos) y por anomalías esqueléticas (lordosis, escoliosis, vértebras aplanadas, pectus carinatum, coxa vara, pie equinovaro, y anomalías de la epífisis o de la metáfisis).","Spanish_Disease_Name__c":"displasia espondiloepimetafisaria tipo strudwick","Spanish_GARD_Synonym__c":null,"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 marked metaphyseal changes is a group of rare skeletal disorders. People with SED with marked metaphyseal changes have abnormalities of the spine (spondylo-) and the regions near the ends (metaphyses) and at the ends (epiphyses) of the long bones in the arms and legs. The severity of the signs and symptoms can vary from person to person. People with SED with marked metaphyseal changes may have a short torso, shortened arms and legs, and flattened bones of the spine (platyspondyly), which all lead to short stature. People with SED with marked metaphyseal changes may develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck can cause these bones to shift, which increases the risk of damage to the spinal cord.  Other features of SED with marked metaphyseal changes may include legs that curve outward or inward (valgus or varus deformity) and irregular bone formation (ossification) in the long bones. Changes in the position of the thigh bone where it meets the hip joint can cause difficulty walking.  Affected individuals may also have joint pain, swollen joints, and joint deformities (contractures). Arthritis may develop early in life. The conditions that make up SED with marked metaphyseal changes were once thought to be distinct disorders, but they are now considered to be part of the same disease spectrum. These conditions include spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-S); spondylometaphyseal dysplasia, Algerian type (SMD-A); spondyloepiphyseal dysplasia, Stanescu type (SED-S); some cases of spondylometaphyseal dysplasia, corner fracture type (SMDCF); and dysspondyloenchondromatosis (DSC).","Curated_Disease_Description_Source__c":"MONDO:0008476","GARD_Synonym__c":"dappled metaphysis syndrome; semd - spondyloepimetaphyseal dysplasia, strudwick type; semdstwk; spondyloepimetaphyseal dysplasia congenita, strudwick type; strudwick syndrome","Name":"Spondyloepimetaphyseal dysplasia, Strudwick type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Little People UK","Website__c":"https://littlepeopleuk.org/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"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":"Infancy","Provided_By__c":"ORPHA:93346"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93346"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000134","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0700635","Source__c":"C0700635","Xref__c":"C0700635"},{"URL__c":"https://www.orpha.net/en/disease/detail/93346","Source__c":"C0700635; MONDO:0008476; ORPHA:93346","Xref__c":"ORPHA:93346"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=147134","Source__c":"C0700635","Xref__c":"MEDGEN:147134"},{"URL__c":"https://www.omim.org/entry/184250","Source__c":"C0700635; MONDO:0008476; ORPHA:93346","Xref__c":"OMIM:184250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080028","Source__c":"MONDO:0008476","Xref__c":"DOID:0080028"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702350003","Source__c":"C0700635; MONDO:0008476","Xref__c":"702350003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008476","Source__c":"GARD:0000134","Xref__c":"MONDO:0008476"}],"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":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008755","HPO_Name__c":"Laryngotracheomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045060","HPO_Name__c":"Aplasia/hypoplasia involving bones of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000162","HPO_Synonym__c":"Lingual retraction; Retraction of the tongue","HPO_Name__c":"Glossoptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008462","HPO_Name__c":"Cervical instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008800","HPO_Synonym__c":"Limited hip movement","HPO_Name__c":"Limited hip movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003173","HPO_Synonym__c":"Hypoplastic pubic bones; Hypoplastic pubis","HPO_Name__c":"Hypoplastic pubic bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of one or more vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100569","HPO_Synonym__c":"Abnormal bone maturation of vertebra; Abnormal vertebral ossification; Abnormality of ossification/mineralisation of vertebrae","HPO_Name__c":"Abnormally ossified vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005193","HPO_Name__c":"Restricted large joint movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction in the size or volume of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010585","HPO_Synonym__c":"Small end part of bone","HPO_Name__c":"Small epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ossification of carpal bones occurs later than age-adjusted norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001216","HPO_Synonym__c":"Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones","HPO_Name__c":"Delayed ossification of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93346","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["dappled metaphysis syndrome"," semd - spondyloepimetaphyseal dysplasia, strudwick type"," semdstwk"," spondyloepimetaphyseal dysplasia congenita, strudwick type"," strudwick syndrome"]}