{"orpha":65759,"name":"Carpenter syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACPS2","Acrocephalopolysyndactyly type 2"],"definition":"A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65759/","orphanet_url":"https://www.orpha.net/en/disease/detail/65759","names":{"fr":{"name":"Syndrome de Carpenter","synonyms":["ACPS2","Acro-céphalo-syndactylie type 2"],"definition":"Craniosynostose syndromique rare à expression phénotypique variable caractérisée par une craniosynostose, une déficience intellectuelle, un faciès particulier, des malformations des doigts et des orteils (brachydactylie, polydactylie et syndactylie), une petite taille, une cardiopathie congénitale, des anomalies squelettiques, une obésité, des anomalies génitales et une hernie ombilicale."},"de":{"name":"Carpenter-Syndrom","synonyms":["ACPS2","Akrozephalopolysyndaktylie Typ 2"],"definition":"Eine seltene syndromale Form der Kraniosynostose mit variabler phänotypischer Ausprägung, die durch Kraniosynostose, Intelligenzminderung, ausgeprägte Gesichtszüge, Anomalien der Finger und Zehen (Brachydaktylie, Polydaktylie und Syndaktylie), Kleinwuchs, angeborene Herzfehler, Skelettdefekte, Adipositas, Genitalanomalien und Nabelbruch gekennzeichnet ist."},"es":{"name":"Síndrome de Carpenter","synonyms":["ACPS 2","Acrocefalopolisindactilia tipo 2"],"definition":"Es una craneosinostosis sindrómica poco frecuente con expresión fenotípica variable caracterizada por craneosinostosis, discapacidad intelectual, facies característica, anomalías de los dedos de las manos y de los pies (braquidactilia, polidactilia y sindactilia), talla baja, cardiopatía congénita, defectos esqueléticos, obesidad, anomalías genitales y hernia umbilical."},"it":{"name":"Sindrome di Carpenter","synonyms":["ACPS2","Acrocefalopolisindattilia, tipo 2"],"definition":"Si tratta di una craniosinostosi sindromica rara con fenotipo variabile, caratterizzata da craniosinostosi, disabilità intellettiva, facies caratteristica, anomalie delle dita delle mani e dei piedi (brachidattilia, polidattilia e sindattilia), bassa statura, cardiopatie congenite, difetti scheletrici, obesità, anomalie dei genitali ed ernia ombelicale."},"nl":{"name":"Syndroom van Carpenter","synonyms":["ACPS 2","Acrocefalopolysyndactylie type 2"],"definition":"Een zeldzame syndromale craniosynostose met variabele fenotypische expressie, gekarakteriseerd door craniosynostose, intellectuele achterstand, kenmerkend gelaat, afwijkingen van vingers en tenen (brachydactylie, polydactylie en syndactylie), kleine gestalte, congenitale hartziekte, defecten van skelet, obesitas, genitale anomalieën, en hernia umbilicalis."},"pt":{"name":"Síndrome Carpenter","synonyms":["ACPS2","Acrocefalopolissindactilia tipo 2"]},"pl":{"name":"Zespół Carpentera","synonyms":["ACPS2","Akrocefalopolisyndaktylia typu 2"]},"cs":{"name":"Carpenterův syndrom","synonyms":["ACPS2","Akrocefalopolysyndaktylie, typ 2"]},"uk":{"name":"Синдром Карпентера","synonyms":["ACPS2","Акроцефалополісиндактилія 2 типу"],"definition":"A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia."},"zh":{"name":"Carpenter综合征","synonyms":["尖头多指（趾）并指（趾）畸形2型"]},"tr":{"name":"Carpenter sendromu","synonyms":["ACPS2","Akrosefalopolisindaktili tip 2"]}},"xrefs":[{"source":"OMIM","code":"201000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614976","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2132713612"},{"source":"MONDO","code":"0019012","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275078","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6003","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3210,"name":"Summitt syndrome","status":"inactive"},{"type":"Moved to","orpha":65798,"name":"Goodman syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"RAB23","name":"RAB23, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17503333[PMID]_21412941[PMID]","hgnc":"14263","ensembl":"ENSG00000112210","omim":"606144","loci":["6p12.1-p11.2"]},{"symbol":"MEGF8","name":"multiple EGF like domains 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23063620[PMID]","hgnc":"3233","ensembl":"ENSG00000105429","omim":"604267","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"23063620[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":"2024-03-14","source":"15129947[PMID]_20358613[PMID]_474616[PMID]_3322002[PMID]_2309763[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","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:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000263","label":"Oxycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012243","label":"Abnormal reproductive system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001748","label":"Polysplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}