{"orpha":2181,"name":"Hydrocephaly-tall stature-joint laxity syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Daish-Hardman-Lamont syndrome"],"definition":"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2181/","orphanet_url":"https://www.orpha.net/en/disease/detail/2181","names":{"fr":{"name":"Syndrome d'hydrocéphalie-grande taille-hyperlaxité","synonyms":["Syndrome de Daish-Hardman-Lamont"],"definition":"Le syndrome d'hydrocéphalie-grande taille-hyperlaxité est un syndrome d'anomalies congénitales multiples décrit chez deux soeurs et caractérisé par la présence d'une hydrocéphalie (apparue au cours de la petite enfance), une grande taille, une hyperlaxité articulaire et une cyphose thoraco-lombaire. Il n'y a pas eu de description ultérieure dans la littérature depuis 1989."},"de":{"name":"Hydrozephalus-Hochwuchs-Gelenklaxität-Syndrom","synonyms":["Daish-Hardman-Lamont-Syndrom"],"definition":"Das Daish-Hardman-Lamont-Syndrom ist ein Syndrom mit multiplen angeborenen Anomalien, das durch das Vorhandensein von Hydrozephalus (Beginn im Säuglingsalter), hoher Statur, Gelenk-Laxität und thorakolumbaler Kyphose gekennzeichnet ist. Es wurde bei zwei Schwestern beobachtet. Seit 1989 gibt es in der Literatur keine weiteren Berichte."},"es":{"name":"Síndrome de hidrocefalia-talla alta-hiperlaxitud","definition":"El síndrome de hidrocefalia-estatura alta-hiperlaxitud es un síndrome de múltiples anomalías congénitas descrito en dos hermanas y caracterizado por la presencia de hidrocefalia (de aparición en lactantes), estatura elevada, laxitud articular y cifosis torácico-lumbar. No se han encontrado más descripciones en la literatura desde 1989."},"it":{"name":"Idrocefalo - alta statura - iperlassità","synonyms":["Sindrome di Daish-Hardman-Lamont"],"definition":"La sindrome idrocefalo-alta statura-lassità articolare è una sindrome da anomalie congenite multiple descritta in due sorelle. È caratterizzata da idrocefalo (ad esordio nella prima infanzia), alta statura, lassità articolare e cifosi toraco-lombare. Non sono stati descritti nuovi casi dal 1989."},"nl":{"name":"Hydrocefalie - grote gestalte - gewrichtslaxiteit-syndroom","synonyms":["Syndroom van Daish-Hardman-Lamont"],"definition":"Hydrocefalie - grote gestalte - gewrichtslaxiteit-syndroom is een syndroom met meervoudige congenitale afwijkingen, beschreven bij twee zussen en gekenmerkt door de aanwezigheid van hydrocefalus (met aanvang in de zuigelingentijd), grote gestalte, gewrichtslaxiteit en thoracolumbale kyfose. Sinds 1989 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular","synonyms":["Síndrome Daish-Hardman-Lamont"]},"pl":{"name":"Wodogłowie - wysoki wzrost - wiotkość stawów","synonyms":["Zespół Daisha, Hardmana i Lamonta"]},"cs":{"name":"Syndrom zahrnující hydrocefalus, vysoký vzrůst a nadměrnou kloubní volnost","synonyms":["Daishův-Hardmanův-Lamontův syndrom","Daish-Hardman-Lamontův syndrom"]},"uk":{"name":"Синдром гідроцефалії-високого зросту-слабкості суглобів","synonyms":["Синдром Дайша-Хардмана-Ламонта"],"definition":"Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989."},"zh":{"name":"脑积水-高身材-关节松弛综合征","synonyms":["Daish-Hardman-Lamont综合征"]},"tr":{"name":"Hidrosefali-uzun boy-eklem gevşekliği sendromu","synonyms":["Daish-Hardman-Lamont sendromu"]}},"xrefs":[{"source":"OMIM","code":"236660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009363","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856051","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1666","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2918526[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2918526[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-16","source":null,"terms":[{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003834","label":"Shoulder dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null}]}}