{"orpha":2095,"name":"Gorlin-Chaudhry-Moss syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome","Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome","Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome","GCM syndrome"],"definition":"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2095/","orphanet_url":"https://www.orpha.net/en/disease/detail/2095","names":{"fr":{"name":"Syndrome de Gorlin-Chaudhry-Moss","synonyms":["Syndrome de dysostose craniofaciale-anomalies génitales, dentaires et cardiaques"],"definition":"Syndrome d'anomalies congénitales multiples caractérisé par une dysostose craniofaciale, une dysmorphie faciale, une surdité de transmission, une hypertrichose généralisée et des anomalies oculaires, dentaires et des extrémités."},"de":{"name":"Gorlin-Chaudhry-Moss-Syndrom","synonyms":["GCM-Syndrom","Kraniofaziale Dysostose mit genitaler, dentaler und kardialer Anomalie","Kraniofaziale Dysostose-Hypertrichose-Hypoplasie der Labia majora-Syndrom"],"definition":"Das Gorlin-Chaudhri-Moss-(GCM)-Syndrom ist gekennzeichnet durch multiple angeborene Anomalien, die sich Form von kraniofazialer Dysostose, Gesichtsdysmorphien, Schalleitungs-Schwerhörigkeit, generalisierte Hypertrichose und Extremitäten-, Augen- und Zahnanomalien manifestieren."},"es":{"name":"Síndrome de Gorlin-Chaudhry-Moss","synonyms":["Síndrome de GCM","Síndrome de anomalías dentales y oculares-ductus arterioso persistente-inteligencia normal","Síndrome de disostosis craneofacial-anomalías genitales-dentales-cardíacas","Síndrome de disostosis craneofacial-hipertricosis-hipoplasia de los labios mayores"],"definition":"El síndrome de Gorlin-Chaudry-Moss (GCM) es un síndrome de anomalías congénitas múltiples caracterizado por disostosis craneofacial, dismorfismo facial, pérdida auditiva conductiva, hipertricosis generalizada y anomalías oculares, dentales y en las extremidades."},"it":{"name":"Sindrome di Gorlin-Chaudhry-Moss","synonyms":["Sindrome GCM","Sindrome anomalie dentali e oculari-dotto arterioso pervio-intelligenza normale","Sindrome disostosi craniofacciale-anomalie genitali, dentali e cardiache","Sindrome disostosi craniofacciale-ipertricosi-ipoplasia delle grandi labbra"],"definition":"La sindrome di Gorlin-Chaudhry-Moss (GCM) è una sindrome da anomalie congenite multiple; è caratterizzata da disostosi craniofacciale, dismorfismi facciali, sordità di conduzione, ipertricosi generalizzata e anomalie oculari, dentale e delle estremità."},"nl":{"name":"Syndroom van Gorlin-Chaudhry-Moss","synonyms":["Craniofaciale dysostose - genitale, dentale en cardiale anomalieën-syndroom","Craniofaciale dysostose - hypertrichose - hypoplasie van labia majora-syndroom","GCM-syndroom","Tand- en ooganomalieën - persisterende ductus arteriosus - normale intelligentie-syndroom"],"definition":"Gorlin-Chaudhry-Moss (GCM)-syndroom is een syndroom met meervoudige aangeboren afwijkingen, gekenmerkt door craniofaciale dysostose, faciale dysmorfie, conductief gehoorverlies, gegeneraliseerde hypertrichose en ledemaat-, oculaire en tandheelkundige afwijkingen."},"pt":{"name":"Síndrome Gorlin-Chaudry-Moss","synonyms":["Síndrome de disostose craniofacial-anomalias genito-dento-cardíacas"]},"pl":{"name":"Zespół Gorlina, Chaudhry i Mossa","synonyms":["Dyzostoza czaszkowo-twarzowa - wady narządów płciowych, zębów i serca"]},"cs":{"name":"Gorlinův-Chaudhryho-Mossův syndrom","synonyms":["GCM syndrom","Syndrom zahrnující kraniofaciální dysostózu a genitální, dentální a srdeční vady","Syndrom zahrnující kraniofaciální dysostózu, hypertrichózu a hypoplázii velkých stydkých pysků","Syndrom zahrnující dentální a oční anomálie, patentní ductus arteriosus a normální inteligenci","Gorlin-Chaudhry-Mossův syndrom"]},"uk":{"name":"Синдром Горліна-Чодрі-Мосса","synonyms":["Черепно-лицьовий дизостоз - синдром генітальних, зубних, серцевих аномалій","Синдром краніофаціального дизостозу-гіпертрихозу-гіпоплазії великих статевих губ","Синдром зубних та очних аномалій - відкритої артеріальної протоки - нормального інтелекту","Синдром GCM"],"definition":"Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies."},"zh":{"name":"Gorlin-Chaudhry-Moss综合征","synonyms":["牙眼异常-动脉导管未闭-智力正常综合征"]},"tr":{"name":"Gorlin-Chaudhry-Moss sendromu","synonyms":["GCM sendromu","Kraniyofasiyal dizostoz-genital, diş, kalp anomalileri sendromu","Kranofasiyal dizostoz-hipertrikoz-labia majora sendromu hipoplazisi","Diş ve göz anomalileri-patent duktus arteriyozus-normal zeka sendromu"]}},"xrefs":[{"source":"OMIM","code":"612289","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"996390253"},{"source":"UMLS","code":"C5848089","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"66","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":697101,"name":"Fontaine progeroid syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"SLC25A24","name":"solute carrier family 25 member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100093[PMID]","hgnc":"20662","ensembl":"ENSG00000085491","omim":"608744","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23686885[PMID]"},{"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:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008497","label":"Congenital craniofacial dysostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","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:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010940","label":"Aplasia/Hypoplasia of the nasal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000636","label":"Upper eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null}]}}