{"orpha":2163,"name":"Holoprosencephaly-craniosynostosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Camero-Lituania-Cohen syndrome","Genoa syndrome"],"definition":"A rare syndromic craniosynostosis characterized by primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Additional clinical features may include craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2163/","orphanet_url":"https://www.orpha.net/en/disease/detail/2163","names":{"fr":{"name":"Syndrome d'holoprosencéphalie-craniosynostose","synonyms":["Syndrome de Camera-Lituania-Cohen","Syndrome de Gênes"],"definition":"Un trouble rare du développement au cours de l'embryogenèse. Il se caractérise par une craniosynostose primaire (impliquant généralement les sutures coronales et métopiques) associée à une holoprosencéphalie (variant d'une forme alobaire à une forme semi-lobaire (plus fréquente)) et diverses anomalies squelettiques (typiquement, des anomalies des mains et des pieds, incluant une clinodactylie du 5è doigt, des phalanges hypoplasiques et des épiphyses coniques, des corps vertébraux courts, une scoliose, une coxa valga et/ou des malformations en flexion des hanches). Une asymétrie craniofaciale, une microcéphalie, une brachy-plagiocéphalie, une petite taille et un retard psychomoteur sont des signes additionnels fréquents."},"de":{"name":"Holoprosenzephalie-Kraniosynostose-Syndrom","synonyms":["Camera-Lituania-Cohen-Syndrom","Genoa-Syndrom"],"definition":"Ein seltener Entwicklungsdefekt während der Embryogenese, der gekennzeichnet ist durch die Assoziation einer primären Kraniosynostose (normalerweise mit Beteiligung der koronalen und metopischen Nähte) mit Holoprosenzephalie (von alobar bis, am häufigsten semilobar) und verschiedenen Skelettanomalien (typischerweise Hand- und Fußanomalien einschließlich Klinodaktylie des fünften Fingers, hypoplastische Phalangen und kegelförmige Epiphysen, kleine Wirbelkörper, Skoliose, Coxa valga und/oder Flexionsdeformitäten der Hüften). Kraniofaziale Asymmetrie, Mikrozephalie, Brachy-/Plagiozephalie, Kleinwuchs und psychomotorische Verzögerung sind weitere häufige Merkmale. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de holoprosencefalia-craneosinostosis","synonyms":["Síndrome de Camero-Lituania-Cohen","Síndrome de Genoa"],"definition":"El síndrome de holoprosencefalia-craneosinostosis es un defecto del desarrollo embrionario poco frecuente, caracterizado por la asociación de craneosinostosis primaria (que generalmente afecta a las suturas coronal y metópica) con holoprosencefalia (que varía de alobar a, más comúnmente, semilobar) y diversas anomalías esqueléticas (normalmente, anomalías en pies y manos que incluyen clinodactilia del quinto dígito, falanges hipoplásicas y epífisis en forma de cono, cuerpos vertebrales pequeños, escoliosis, coxa valga y/o malformaciones de la cadera en flexión). Otras características comunes son asimetría craneofacial, microcefalia, braquicefalia/plagiocefalia, estatura baja y retraso psicomotor."},"it":{"name":"Oloprosencefalia - craniosinostosi","synonyms":["Sindrome di Camero-Lituania-Cohen","Sindrome di Genova"],"definition":"La sindrome oprosencefalia-craniosinostosi è un difetto raro dello sviluppo dell'embrione, caratterizzato dall'associazione tra craniosinostosi primitiva (che di solito interessa la sutura coronale e metopica) e oloprosencefalia (alobare o, più spesso, semilobare). Si associano diverse anomalie scheletriche (di solito delle mani e dei piedi, ad esempio clinodattilia del quinto dito, ipoplasia delle falangi ed epifisi a cono, corpi vertebrali piccoli, scoliosi, coxa valga e/o deformità in flessione delle anche). Altri segni clinici comuni sono l'asimmetria craniofacciale, la microcefalia, la brachi/plagiocefalia, la bassa statura e il ritardo psicomotorio."},"nl":{"name":"Holoprosencefalie - craniosynostose-syndroom","synonyms":["Genoasyndroom","Syndroom van Camero-Lituania-Cohen"],"definition":"Een zeldzame syndromale craniosynostose, gekenmerkt door primaire craniosynostose (meestal met betrokkenheid van kroon- en voorhoofdsnaden) met holoprosencefalie (gaande van alobair tot, het meest gangbaar, semilobair) en verschillende skeletanomalieën (typisch zijn hand- en voetanomalieën waaronder clinodactylie van de vijfde vinger/teen, hypoplastische falangen en kegelvormige epifysen, kleine wervellichamen, scoliose, coxa valga en/of flexiemisvormingen van de heupen). Mogelijke bijkomende klinische kenmerken zijn onder meer craniofaciale asymmetrie, microcefalie, brachy-/plagiocefalie, kleine gestalte en psychomotorische achterstand. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de holoprosencefalia-craniossinostose","synonyms":["Síndrome Camera-Lituania-Cohen","Síndrome Genoa"]},"pl":{"name":"Holoprozencefalia - kraniosynostoza","synonyms":["Zespół Camero, Lituania i Cohena","Zespół Genoa"]},"cs":{"name":"Syndrom zahrnující holoprosencefalii a kraniosynostózu","synonyms":["Janovský syndrom","Camerův-Lituaniův-Cohenův syndrom","Camer-Lituania-Cohenův syndrom"]},"uk":{"name":"Синдром голопрозенцефалії-краніосиностозу","synonyms":["Синдром Камеро-Літуаніа-Коена","Генуезький синдром"],"definition":"Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features."},"zh":{"name":"前脑无裂畸形-颅缝早闭综合征","synonyms":["Camero-Lituania-Cohen综合征"]},"tr":{"name":"Holoprosensefali-kraniyosinostoz sendromu","synonyms":["Cenova sendromu","Kamerun-Litvanya-Cohen sendromu"]}},"xrefs":[{"source":"OMIM","code":"601370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"894037041"},{"source":"MONDO","code":"0011059","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537684","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832424","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2454","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"20104614[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20104614[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","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:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null}]}}