{"orpha":2435,"name":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Westerhof-Beemer-Cormane syndrome"],"definition":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2435/","orphanet_url":"https://www.orpha.net/en/disease/detail/2435","names":{"fr":{"name":"Syndrome de macules cutanées hypo- et hypermélaniques-retard de croissance-déficience intellectuelle","synonyms":["Syndrome de Westerhof-Beemer-Cormane"],"definition":"Le syndrome de macules cutanées hypo- et hypermélaniques-retard de croissance-déficience intellectuelle est une anomalie génétique rare de la pigmentation cutanée caractérisée par des macules cutanées hypomélaniques et hypermélaniques congénitales, associées chez certains patients à un retard de croissance et à un déficit intellectuel. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1978."},"de":{"name":"Maculae, hypopigmentierte und hyperpigmentierte, hereditäre kongenitale","synonyms":["Westerhof-Beemer-Cormane-Syndrom"],"definition":"Eine seltene, genetisch bedingte Pigmentierungsanomalie der Haut, die durch kongenitale hypomelanotische und hypermelanotische kutane Maculae gekennzeichnet ist und bei einigen Patienten mit Wachstumsverzögerung und und intellektueller Beeinträchtigung einhergeht. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual","definition":"El síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual es un trastorno genético poco frecuente que produce anomalías de la pigmentación de la piel caracterizado por máculas cutáneas congénitas hipo- e hipermelanóticas asociadas, en algunos pacientes, con retraso del crecimiento y discapacidad intelectual. No ha se han descrito nuevos casos en la literatura desde 1978."},"it":{"name":"Macule cutanee ipo- e ipermelanotiche - ritardo della crescita - disabilità intellettiva","synonyms":["Sindrome di Westerhof-Beemer-Cormane"],"definition":"La sindrome che associa macchie cutanee ipo- e iper-melanotiche-ritardo della crescita-disabilità intellettiva è un'anomalia genetica rara della pigmentazione della cute, caratterizzata da macchie cutanee ipomelanotiche e ipermelanotiche congenite associate, in alcuni pazienti, a ritardo della crescita e disabilità intellettiva. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Hypo- en hypermelanotische cutane maculae - vertraagde groei - intellectuele achterstand-syndroom","synonyms":["Syndroom van Westerhof-Beemer-Cormane"],"definition":"Hypo- en hypermelanotische cutane maculae - vertraagde groei - intellectuele achterstand-syndroom is een zeldzame, genetische pigmentatie-anomalie van de huid die wordt gekarakteriseerd door congenitale hypomelanotische en hypermelanotische cutane maculae geassocieerd met, in sommige patiënten, vertraagde groei en intellectuele achterstand. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de máculas congénitas hereditárias hipo- e hiperpigmentadas-perturbação do crescimento e do desenvolvimento intelectual","synonyms":["Síndrome Westerhof-Beemer-Cormane"]},"pl":{"name":"plamy skórne hipomelanotyczne i hipermelanotyczne - opóźnienie wzrostu - niepełnosprawność intelektualna","synonyms":["Zespół Westerhofa, Beemera i Cormane'a"]},"cs":{"name":"Syndrom zahrnující hypo- a hypermelanózní kožní makuly, opožděný růst a mentální retardaci","synonyms":["Westerhofův-Beemerův-Cormaneův syndrom","Westerhof-Beemer-Cormaneův syndrom"]},"uk":{"name":"Синдром гіпо- та гіпермеланотичної шкірної макули-затримки росту-інтелектуальної недостатності","synonyms":["Синдром Вестергофа-Бімера-Кормана"],"definition":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978."},"zh":{"name":"低黑斑和深黑斑-生长迟缓-智力残疾综合征","synonyms":["Westerhof-Beemer-Cormane综合征"]},"tr":{"name":"Hipo- ve hipermelanotik kutanöz maküller-gelişme geriliği-zihinsel yetersizlik sendromu","synonyms":["Westerhof-Beemer-Cormane sendromu"]}},"xrefs":[{"source":"ICD-10","code":"L81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183463,"name":"Genetic pigmentation anomaly of the skin","classifications":[156]},{"orpha":79374,"name":"Pigmentation anomaly of the skin","classifications":[187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"666331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_666331[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}