{"orpha":79345,"name":"Brachytelephalangic chondrodysplasia punctata","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79345/","orphanet_url":"https://www.orpha.net/en/disease/detail/79345","names":{"fr":{"name":"Chondrodysplasie ponctuée avec brachytéléphalangie","definition":"Forme de chondrodysplasie ponctuée non rhizomélique (une dysplasie osseuse primaire), caractérisée par une hypoplasie des phalanges distales des doigts, une hypoplasie du nez, l'apparition d'épiphyses ponctuées au cours de la première année de vie et des os longs non rhizoméliques légèrement raccourcis."},"de":{"name":"Chondrodysplasia punctata, brachytelephalangealer Typ","definition":"Die Chondrodysplasia punctata vom brachytelephalangealen Typ (BCDP) gehört zu der Gruppe der primären Knochendysplasien und ist eine Form der nicht-rhizomelen Chondrodysplasia punctata. Sie ist gekennzeichnet durch eine Hypoplasie der distalen Phalangen der Finger, Nasenhypoplasie, im ersten Lebensjahr auftretende getüpfelte Epiphysen sowie eine milde und nicht-rhizomele Verkürzung der langen Knochen."},"es":{"name":"Condrodisplasia punctata braquitelefalángica","definition":"La condrodisplasia punctata braquitelefalángica (BCDP, por sus siglas en inglés) es una forma de condrodisplasia punctata no rizomélica, una displasia ósea primaria, caracterizada por hipoplasia de las falanges distales de los dedos, hipoplasia nasal, calcificaciones punteadas en las epífisis óseas que aparecen en el primer año de vida, así como leve acortamiento no rizomélico de huesos largos."},"it":{"name":"Condrodisplasia puntata brachitelefalangica","definition":"La condrodisplasia puntata brachitelefalangica (BCDP) è una forma di condrodisplasia puntata non rizomelica, una displasia scheletrica primitiva, caratterizzata da ipoplasia delle falangi distali delle dita delle mani, ipoplasia del naso, epifisi punteggiate, che si manifesta nel primo anno di vita in associazione con un lieve accorciamento non rizomelico delle ossa lunghe."},"nl":{"name":"Brachytelefalangeale chondrodysplasia punctata","synonyms":["BCDP"],"definition":"Brachytelefalangeale chondrodysplasia punctata (BCDP) is een vorm van niet-rhizomele chondrodysplasia punctata, een primaire botdysplasie, en wordt gekarakteriseerd door hypoplasie van de distale falangen van de vingers, nasale hypoplasie, epifysaire stippeling die verschijnt in het eerste levensjaar, en milde en niet-rhizomele kortheid van de pijpbeenderen."},"pt":{"name":"Condrodisplasia pontuada braquitelefalângica","definition":"A condrodisplasia punctata braquitelefalângica (BCDP) é uma forma de condrodisplasia puntiforme não rizomélica, uma displasia óssea primária, caracterizada por hipoplasia das falanges distais dos dedos, hipoplasia nasal, pontilhado epifisário que surge no primeiro ano de vida, bem como encurtamento ligeiro e não rizomélico dos ossos longos."},"pl":{"name":"Chondrodysplazja punktowa ze skróceniem paliczków dystalnych"},"cs":{"name":"Brachytelefalangická chondrodysplasia punctata"},"uk":{"name":"Брахітелефалангова точкова хондродисплазія","definition":"Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones."},"zh":{"name":"末节指骨短小点状软骨发育不良"},"tr":{"name":"Brakitelefalanjik kondrodisplazi punktata"}},"xrefs":[{"source":"OMIM","code":"302950","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"602497","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1415807278"},{"source":"MONDO","code":"0010555","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10555","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000705207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1296","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":79344,"name":"OBSOLETE: Chondrodysplasia punctata, Sheffield type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":176,"name":"Non-rhizomelic chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ARSL","name":"arylsulfatase L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301713[PMID]","hgnc":"719","ensembl":"ENSG00000157399","omim":"300180","loci":["Xp22.33"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr BAUJAT Geneviève[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-03","source":"24712475[PMID]_20301713[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010666","label":"Hypoplasia of the anterior nasal spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008420","label":"Punctate vertebral calcifications","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001857","label":"Short distal phalanx of toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009107","label":"Abnormal ossification involving the femoral head and neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000052","label":"Abnormality of hyoid bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000919","label":"Abnormality of the costochondral junction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003467","label":"Atlantoaxial instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003320","label":"C1-C2 subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004695","label":"Calcaneal epiphyseal stippling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002341","label":"Cervical cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008445","label":"Cervical spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010646","label":"Cervical spine instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008469","label":"Cervical vertebral dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010171","label":"Epiphyseal stippling of toe phalanges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008754","label":"Laryngeal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010255","label":"Stippling of the epiphyses of the distal phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002787","label":"Tracheal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008417","label":"Vertebral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Excluded (0%)","criteria":null}]}}