{"orpha":2835,"name":"Pectus excavatum-macrocephaly-dysplastic nails syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Zori-Stalker-Williams syndrome"],"definition":"Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2835/","orphanet_url":"https://www.orpha.net/en/disease/detail/2835","names":{"fr":{"name":"Syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale","synonyms":["Syndrome de Zori-Stalker-Williams"],"definition":"Un syndrome rare d'anomalies congénitales multiples caractérisé par une macrocéphalie relative, un pectus excavatum, une petite taille, une dysplasie unguéale et un retard de développement moteur (se résolvant pendant l'enfance). Il n'y a pas eu de description ultérieure dans la littérature depuis 1992."},"de":{"name":"Pectus excavatum-Makrozephalie-Nageldysplasie-Syndrom","synonyms":["Zori-Stalker-Williams-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch relative Makrozephalie, Pectus excavatum, Kleinwuchs, Nageldysplasie und motorische Entwicklungsverzögerung (die sich im Laufe der Kindheit zurückbildet) gekennzeichnet ist. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de pectus excavatum-macrocefalia-displasia ungueal","synonyms":["Síndrome de Zori-Stalker-Williams"],"definition":"El síndrome de pectus excavatum-macrocefalia-displasia ungueal, es un síndrome de anomalías congénitas múltiples, poco frecuente, y caracterizado por macrocefalia relativa, pectus excavatum, talla baja, displasia ungueal y retraso del desarrollo motor (que se resuelve durante la infancia). No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Pectus excavatum -macrocefalia -displasia ungueale","synonyms":["Sindrome di Zori-Stalker-Williams"],"definition":"La sindrome che associa pectus excavatum, macrocefalia e displasia ungueale è una malattia rara da anomalie congenite multiple, caratterizzata da macrocefalia relativa, pectus excavatum, bassa statura, displasia delle unghie e ritardo dello sviluppo motorio (che scompare durante l'infanzia). Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Pectus excavatum - macrocefalie - dysplastische nagels-syndroom","synonyms":["Syndroom van Zori-Stalker-Williams"],"definition":"Pectus excavatum - macrocefalie - dysplastische nagels-syndroom is een zeldzaam syndroom met multipele congenitale anomalieën, en wordt gekarakteriseerd door relatieve macrocefalie, pectus excavatum (trechterborst), kleine gestalte, nageldysplasie, en motorische ontwikkelingsachterstand (die verdwijnt tijdens de kindertijd). Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pectus escavatum-macrocefalia-displasia das unhas","synonyms":["Síndrome Zori-Stalker-Williams"]},"pl":{"name":"Klatka piersiowa lejkowata - wielkogłowie - dysplastyczne paznokcie","synonyms":["Zespół Zori, Stalkera i Williamsa"]},"cs":{"name":"Syndrom zahrnující pectus excavatum, makrocefalii a dysplastické nehty","synonyms":["Zoriho-Stalkerův-Williamsův syndrom","Zori-Stalker-Williamsův syndrom"]},"uk":{"name":"Синдром лійкоподібної деформації грудної клітки-макроцефалії-диспластичних нігтів","synonyms":["Синдром Зорі-Сталкера-Вільямса"],"definition":"Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992."},"zh":{"name":"漏斗胸-大头畸形-指甲发育不良综合征","synonyms":["Zori-Stalker-Williams综合征"]},"tr":{"name":"Pektus ekskavatum-makrosefali-displastik tırnak sendromu","synonyms":["Zori-Stalker-Williams sendromu"]}},"xrefs":[{"source":"OMIM","code":"600399","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931302","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null}]}}