{"orpha":1453,"name":"Cleidorhizomelic syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Rhizomelic shortness with clavicular defect","Wallis-Zieff-Goldblatt syndrome"],"definition":"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1453/","orphanet_url":"https://www.orpha.net/en/disease/detail/1453","names":{"fr":{"name":"Syndrome cléido-rhizomélique","synonyms":["Syndrome de Wallis-Zieff-Goldblatt"],"definition":"Le syndrome cléido-rhizomélique est une dysplasie rhizo-mésomélique caractérisée par une petite taille/nanisme rhizomélique associée à des défauts claviculaires latéraux. D'autres manifestations incluent une brachydactylie avec clinodactylie bilatérale et une hypoplasie de la deuxième phalange du cinquième doigt. La radiographie démontre une clavicule distale en forme de Y ou bifide. Le syndrome cléido-rhizomélique n'a été décrit que chez une famille (une mère et son fils) et pourrait avoir une transmission autosomique dominante. Aucun autre cas n'a été rapporté dans la littérature depuis 1988."},"de":{"name":"Cleido-rhizomeles Syndrom","synonyms":["Rhizomeler Kleinwuchs mit Defekt der Klavikula","Wallis-Zieff-Goldblatt-Syndrom"],"definition":"Das Cleido-rhizomele Syndrom ist eine rhizo-mesomele Dysplasie und gekennzeichnet durch Kleinwuchs in Verbindung mit röntgenologisch nachgewiesener Y-Form oder Aufspaltung des lateralen Anteils der Clavicula. Weitere Symptome sind Brachydaktylie mit beidseitiger Klinodaktylie und Hypoplasie der Kleinfinger-Mittelphalanx. Das Cleido-rhizomele Syndrom wurde in 1 Familie bei Mutter und Sohn beschrieben. Vermutlich wird es autosomal-dominant vererbt. Weitere Fälle wurden seit 1988 nicht beschrieben."},"es":{"name":"Síndrome cleidorizomélico","synonyms":["Acortamiento rizomélico con defecto clavicular","Síndrome de Wallis-Zieff-Goldblatt"],"definition":"El síndrome cleido rizomélico es una displasia rizo-mesomélica caracterizada por estatura baja/enanismo rizomélico en combinación con defectos claviculares laterales. Las manifestaciones adicionales incluyen braquidactilia con clinodactilia bilateral y falange media hipoplásica del quinto dedo. Las radiografías demostraron una clavícula distal en forma de Y o bífida. El síndrome cleido rizomélico ha sido descrito en una familia (madre e hijo) y se sospecha que se transmite de forma autosómica dominante. No ha habido descripciones posteriores en la literatura desde 1988."},"it":{"name":"Sindrome cleidorizomelica","synonyms":["Accorciamento rizomelico con difetto della clavicola","Sindrome di Wallis-Zieff-Goldblatt"],"definition":"La sindrome cleidorizomelica è una displasia rizo-mesomelica caratterizzata da bassa statura/nanismo rizomelico associato a difetti laterali della clavicola. Altri segni clinici sono la brachidattilia con clinodattilia bilaterale e l'ipoplasia delle falangi medie del quinto dito. Le radiografie mostrano un aspetto a Y o una clavicola distale bifida. La sindrome cleidorizomelica è stata descritta in una famiglia (madre e figlio), facendo sospettare una trasmissione autosomica dominante. Gli ultimi casi pubblicati risalgono al 1988."},"nl":{"name":"Cleidorhizomeel syndroom","synonyms":["Rhizomele kleine gestalte met claviculair defect","Syndroom van Wallis-Zieff-Goldblatt"],"definition":"Cleidorhizomeel syndroom is een rhizo-mesomele dysplasie gekenmerkt door rhizomele kleine gestalte/dwerggroei in combinatie met laterale claviculaire gebreken. Bijkomende verschijnselen zijn onder andere brachydactylie met bilaterale clinodactylie en een hypoplastische middelste falanx van de vijfde vinger. Röntgenonderzoek toonde een duidelijk Y-vormig of gespleten buitenste uiteinde van het sleutelbeen aan. Cleidorhizomeel syndroom werd in één familie (moeder en zoon) gemeld en men vermoedt dat het op autosomaal dominante wijze wordt overgeërfd. Er zijn geen verdere beschrijvingen in de literatuur sinds 1988."},"pt":{"name":"Síndrome cleido-rizomélico","synonyms":["Síndrome Wallis-Zieff-Goldblatt"]},"pl":{"name":"Zespół obojczykowo-rizomeliczny","synonyms":["Niskorosłość rizomeliczna z wadą obojczyka","Zespół Wallisa, Zieffiego i Goldblatta"]},"cs":{"name":"Kleidorhizomelický syndrom","synonyms":["Rhizomelické zkrácení s defektem klavikuly","Wallisův-Zieffův-Goldblattův syndrom","Wallis-Zieff-Goldblattův syndrom"]},"uk":{"name":"Клейдоризомелічний синдром","synonyms":["Різомелічне вкорочення з дефектом ключиці","Синдром Волліса-Зіффа-Гольдблата"],"definition":"Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988."},"zh":{"name":"锁骨肩带综合征","synonyms":["肢根短缩伴锁骨缺损"]},"tr":{"name":"Kleidorizomelik sendrom","synonyms":["Wallis-Zieff-Goldblatt sendromu","Klaviküler defekt ile seyreden rizomelik kısalık"]}},"xrefs":[{"source":"OMIM","code":"119650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536428","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861515","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3239579[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3239579[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null}]}}