{"orpha":35173,"name":"X-linked dominant chondrodysplasia punctata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","Conradi-Hünermann-Happle syndrome","X-linked chondrodysplasia punctata type 2"],"definition":"A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35173/","orphanet_url":"https://www.orpha.net/en/disease/detail/35173","names":{"fr":{"name":"Chondrodysplasie ponctuée dominante liée à l'X","synonyms":["CDPX2","CDPXD","CPXD","Chondrodysplasie ponctuée liée à X type 2","Chondrodystrophie congénitale calcifiante","Syndrome de Conradi-Hünermann-Happle"],"definition":"Génodermatose rare présentant une grande variation phénotypique, caractérisée le plus souvent par une ichtyose suivant les lignes de Blaschko, une chondrodysplasie ponctuée (CDP), un raccourcissement asymétrique des membres, des cataractes et une petite taille."},"de":{"name":"Chondrodysplasia punctata, X-chromosomal-dominante","synonyms":["CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","Conradi-Hünermann-Happle-Syndrom","X-chromosomale Chondrodysplasia punctata Typ 2"],"definition":"Eine seltene Genodermatose mit großer phänotypischer Variabilität, die typischerweise durch Ichthyose nach Blaschko, Chondrodysplasia punctata (CDP), asymmetrische Verkürzung der Gliedmaßen, Katarakte und Kleinwuchs charakterisiert ist."},"es":{"name":"Condrodisplasia punctata dominante ligada al cromosoma X","synonyms":["CDPX2","CDPXD","CPXD","Condrodisplasia punctata ligada al cromosoma X tipo 2","Condrodistrofia congénita calcificante","Síndrome de Conradi-Hünermann-Happle"],"definition":"Es una genodermatosis poco frecuente con gran variación fenotípica y caracterizada más comúnmente por ictiosis siguiendo las líneas de Blaschko, condrodisplasia punctata (CDP), acortamiento asimétrico de las extremidades, cataratas y talla baja."},"it":{"name":"Condrodisplasia puntata dominante legata all'X","synonyms":["CDPX2","CDPXD","CPXD","Condrodisplasia puntata legata all'X, tipo 2","Condrodistrofia calcificante congenita","Sindrome di Conradi-Hünermann-Happle"],"definition":"La condrodisplasia puntata dominante legata all'X (CDPX2) è una genodermatosi rara caratterizzata da un quadro clinico molto variabile, che di solito comprende l'ittiosi lungo le linee di Blaschko, la condrodisplasia puntata (CDP), l'accorciamento asimmetrico degli arti, la cataratta e la bassa statura."},"nl":{"name":"X-gebonden dominante chondrodysplasia punctata","synonyms":["CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","Syndroom van Conradi-Hünermann-Happle","X-gebonden chondrodysplasia punctata type 2"],"definition":"Een zeldzame genodermatose met grote fenotypische variatie, meestal gekarakteriseerd door ichthyosis langs de lijnen van Blaschko, chondrodysplasia punctata (CDP), asymmetrische verkorting van de ledematen, cataracten en kleine gestalte."},"pt":{"name":"Condrodisplasia pontuada ligada ao X dominante","synonyms":["CDPX2","CDPXD","CPXD","Condrodisplasia pontuada ligada ao X tipo 2","Condrodistrofia calcificante congénita","Síndrome Conradi-Hünermann-Happle"]},"pl":{"name":"Dominująca chondrodysplazja punktowa sprzężona z chromosomem X","synonyms":["CDPX2","CDPXD","Chondrodysplazja punktowa typu 2 sprzężona z chromosomem X","Chondrodystrofia wrodzona ze zwapnieniami","CPXD","Zespół Conradiego, Hünermanna i Happle'a"]},"cs":{"name":"X-vázaná dominantní chondrodysplasia punctata","synonyms":["CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","X-vázaná chondrodysplasia punctata, typ 2","Conradiho-Hünermannův-Happleův syndrom","Conradi-Hünermann-Happleův syndrom"]},"uk":{"name":"Х-зчеплена домінантна точкова хондродисплазія","synonyms":["CDPX2","CDPXD","Вроджена кальцієва хондродистрофія","Синдром Конраді-Гюнермана-Хеппла","CPXD","Х-зчеплена точкова хондродисплазія 2 типу"],"definition":"A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature."},"zh":{"name":"X-连锁显性点状软骨发育不良","synonyms":["X-连锁遗传点状软骨发育不良2型"]},"tr":{"name":"X'e bağlı dominant kondrodisplazi punktata","synonyms":["CPXD","CDPX2","CDPXD","Conradi-Hünermann-Happle sendromu","Kondrodistrofi kalsifikans konjenita","X'e bağlı kondrodisplazi punktata tip 2"]}},"xrefs":[{"source":"OMIM","code":"302960","qualifier":"E","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":"1162313566"},{"source":"MONDO","code":"0020603","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282102","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98648,"name":"Musculoskeletal disease with cataract","classifications":[156,189]},{"orpha":176,"name":"Non-rhizomelic chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]},{"orpha":281210,"name":"X-linked ichthyosis syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"EBP","name":"EBP cholestenol delta-isomerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21634086[PMID]","hgnc":"3133","ensembl":"ENSG00000147155","omim":"300205","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Validated","source":"21634086[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-15","source":"21634086[PMID]","terms":[{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004468","label":"Anomalous tracheal cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006619","label":"Anterior rib punctate calcifications","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001197","label":"Abnormality of prenatal development or birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005756","label":"Neonatal epiphyseal stippling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}