{"orpha":175,"name":"Cartilage-hair hypoplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive metaphyseal chondrodysplasia","Metaphyseal chondrodysplasia, McKusick type"],"definition":"A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-175/","orphanet_url":"https://www.orpha.net/en/disease/detail/175","names":{"fr":{"name":"Chondrodysplasie métaphysaire autosomique récessive","synonyms":["Chondrodysplasie métaphysaire type McKusick","Hypoplasie cartilage-cheveux"],"definition":"Chondrodysplasie rare caractérisée par une petite taille disproportionnée due à des lésions métaphysaires associée à des cheveux fins à croissance lente."},"de":{"name":"Knorpel-Haar-Hypoplasie","synonyms":["Chondrodysplasie, metaphysäre, autosomal-rezessive","McKusick-Chondrodysplasie"],"definition":"Eine seltene Chondrodysplasie, die durch eine disproportionale Kleinwüchsigkeit aufgrund von metaphysären Läsionen in Verbindung mit feinem, langsam wachsendem Haar gekennzeichnet ist."},"es":{"name":"Hipoplasia de cartílago-cabello","synonyms":["Condrodisplasia metafisaria autosómica recesiva","Hipoplasia de cartílago-pelo"],"definition":"Es una condrodisplasia poco frecuente caracterizada por talla baja desproporcionada debido a lesiones metafisarias en asociación con cabello fino y de crecimiento lento."},"it":{"name":"Ipoplasia cartilagine-capelli","synonyms":["Condrodisplasia metafisaria autosomica recessiva","Condrodisplasia metafisaria, tipo McKusick"]},"nl":{"name":"Hypoplasie van kraakbeen-haar","synonyms":["Autosomaal recessieve metafysaire chondrodysplasie","Metafysaire chondrodysplasie, McKusick-type"],"definition":"Een zeldzame chondrodysplasie, gekenmerkt door disproportioneel kleine gestalte door metafysaire laesies geassocieerd met fijn, traag groeiend haar."},"pt":{"name":"Hipoplasia cartilagem-cabelo","synonyms":["Condrodisplasia metafisária autossómica recessiva","Condrodisplasia metafisária, tipo McKusick"],"definition":"Condrodisplasia rara caracterizada por baixa estatura desproporcional devido a lesões metafisárias associadas a pêlos finos e de crescimento lento."},"pl":{"name":"Hipoplazja chrząstek i włosów","synonyms":["Autosomalna recesywna chondrodysplazja przynasadowa","Chondrodysplazja przynasadowa, typu McKusicka"]},"cs":{"name":"Syndrom hypoplastických chrupavek a vlasů","synonyms":["Autozomálně recesivní metafyzární chondrodysplázie","McKusickův typ metafyzární chondrodysplázie"]},"uk":{"name":"Хрящово-волосяна гіпоплазія","synonyms":["Аутосомно-рецесивна метафізарна хондродисплазія","Метафізарна хондродисплазія, тип МакКузіка"],"definition":"Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."},"zh":{"name":"软骨－毛发发育不全","synonyms":["常染色体隐性遗传干骺端软骨发育不全"]},"tr":{"name":"Kıkırdak-saç hipoplazisi","synonyms":["Metafizyal kondrodisplazi, McKusick tipi","Otozomal çekinik metafizyal kondrodisplazi"]}},"xrefs":[{"source":"OMIM","code":"250250","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"250460","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"469051294"},{"source":"MONDO","code":"0009595","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220748","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6996","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1838,"name":"Metaphyseal dysplasia without hypotrichosis","status":"inactive"},{"type":"Moved to","orpha":93275,"name":"Thanatophoric dysplasia, Glasgow variant","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":169349,"name":"Immuno-osseous dysplasia","classifications":[156,195]},{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"RMRP","name":"RNA component of mitochondrial RNA processing endoribonuclease","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22420014[PMID]","hgnc":"10031","ensembl":"ENSG00000277027","omim":"157660","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":150.0,"area":"Specific population","status":"Validated","source":"22420014[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.34,"area":"Finland","status":"Validated","source":"1404295[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004625","label":"Biconvex vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006589","label":"Flaring of lower rib cage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent 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