{"orpha":2834,"name":"Wrinkly skin syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["WSS","Wrinkled skin syndrome"],"definition":"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2834/","orphanet_url":"https://www.orpha.net/en/disease/detail/2834","names":{"fr":{"name":"Syndrome de la peau ridée","synonyms":["WSS"],"definition":"Le syndrome de la peau ridée (WSS) est caractérisé par une peau ridée au dos des mains et des pieds, un nombre accru de plis palmaires et plantaires, une peau abdominale ridée, de multiples anomalies squelettiques (laxité ligamentaire, luxation congénitale de la hanche), un retard de fermeture de la fontanelle antérieure, une microcéphalie, un retard de croissance pré- et post- natal, un retard de développement et une dysmorphie faciale (racine du nez large, fentes palpébrales obliques et hypertélorisme)."},"de":{"name":"Wrinkly-Skin-Syndrom","synonyms":["WSS"],"definition":"Das 'Wrinkly skin'-Syndrom (WSS) ist gekennzeichnet durch runzlige Haut des Hand- und Fußrückens, vermehrte Zahl der Palmar- und Plantarfurchen, runzlige Haut des Abdomens, multiple Skelettanomalien (überstreckbare Gelenke, angeborene Hüftluxation), später Verschluss der vorderen Fontanelle, Mikrozephalie, prä- und postnatal verzögertes Wachstum, verzögerte Entwicklung und faziale Dysmorphien (breiter Nasenrücken, abwärts gerichtete Lidspalten, Hypertelorismus)."},"es":{"name":"Síndrome de la piel arrugada","synonyms":["WSS"],"definition":"El síndrome de la piel arrugada (WSS) se caracteriza por piel arrugada en el dorso de las manos y los pies, un aumento en el número de los surcos palmares y plantares, una piel abdominal arrugada, múltiples anomalías esqueléticas (laxitud articular y luxación congénita de cadera), cierre tardío de la fontanela anterior, microcefalia, retraso del crecimiento pre- y postnatal, retraso del desarrollo y dismorfia facial (puente nasal ancho, fisuras palpebrales inclinadas hacia abajo e hipertelorismo)."},"it":{"name":"Sindrome della cute rugosa","synonyms":["WSS"]},"nl":{"name":"Rimpelige huid-syndroom","synonyms":["'Wrinkly skin'-syndroom","Gerimpelde huid-syndroom","WSS"],"definition":"Rimpelige huid-syndroom (WSS) wordt gekenmerkt door gerimpelde huid op de rug van handen en voeten, verhoogd aantal huidlijnen op handpalm en voetzool, gerimpelde abdominale huid, meervoudige skeletanomalieën (gewrichtslaxiteit en congenitale luxatie van heup), late sluiting van voorste fontanel, microcefalie, pre- en postnatale groeiretardatie, ontwikkelingsachterstand, en faciale dysmorfie (brede neusbrug, schuin naar beneden hellende ooglidspleten en hypertelorisme)."},"pt":{"name":"Síndrome da pele enrugada","definition":"A síndrome da pele enrugada (WSS) é caracterizada pelo enrugamento da pele do dorso das mãos e dos pés, aumento do número de vincos palmares e plantares, pele abdominal enrugada, múltiplas anomalias esqueléticas (frouxidão articular e luxação congénita da anca), encerramento tardio da fontanela anterior, microcefalia, atraso de crescimento pré e pós-natal, atraso no desenvolvimento e dismorfismo facial (ponte nasal larga, fissuras palpebrais inclinadas para baixo e hipertelorismo)."},"pl":{"name":"Zespół pomarszczonej skóry","synonyms":["WSS","Zespół skóry ze zmarszczkami"]},"cs":{"name":"Syndrom vrásčité kůže","synonyms":["WSS"]},"uk":{"name":"Синдром зморшкуватої шкіри","synonyms":["Синдром зморшкуватої шкіри","WSS"],"definition":"Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."},"zh":{"name":"皱皮综合症","synonyms":["皱皮综合征"]},"tr":{"name":"Kırışık cilt sendromu","synonyms":["WSS","Kırışık cilt sendromu"]}},"xrefs":[{"source":"OMIM","code":"278250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"638767040"},{"source":"MONDO","code":"0010208","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536750","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"273","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","classifications":[147,150,156,181,182,186,187,199]}],"children":[],"genes":[{"symbol":"ATP6V0A2","name":"ATPase H+ transporting V0 subunit a2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18157129[PMID]","hgnc":"18481","ensembl":"ENSG00000185344","omim":"611716","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-04","source":"19401719[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]","terms":[{"hpo":"HP:0007407","label":"Excessive skin wrinkling on dorsum of hands and fingers","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003160","label":"Abnormal isoelectric focusing of serum transferrin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010838","label":"High nonceruloplasmin-bound serum copper","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006114","label":"Multiple palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008113","label":"Multiple plantar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004993","label":"Slender long bones with narrow diaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200141","label":"Small, conical teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011995","label":"Atrial septal dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010989","label":"Abnormality of the intrinsic pathway","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Excluded (0%)","criteria":null}]}}