{"orpha":2872,"name":"Cardiocranial syndrome, Pfeiffer type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniosynostosis-congenital heart disease-intellectual disability syndrome","Pfeiffer-Singer-Zschiesche syndrome"],"definition":"A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2872/","orphanet_url":"https://www.orpha.net/en/disease/detail/2872","names":{"fr":{"name":"Syndrome cardio-crânien type Pfeiffer","synonyms":["Syndrome de Pfeiffer-Singer-Zschiesche","Syndrome de craniosténose sagittale-cardiopathie congénitale-déficience intellectuelle-ankylose mandibulaire","Syndrome de craniosynostose-cardiopathie-déficience intellectuelle"],"definition":"Syndrome rare d'anomalies congénitales multiples associé à une déficience intellectuelle. La maladie se caractérise généralement par une dysmorphie faciale (craniosynostose sagittale, hypertélorisme, strabisme, oreilles dysplasiques à implantation basse, rétrognathie ou micrognathie, ankyloses mandibulaires, fente palatine, aplasie de la luette), des malformations cardiaques congénitales (communication interventriculaire, retour veineux anormal), des anomalies génitales (cryptorchidie, micropénis), ainsi qu'un retard de croissance. Dans certains cas, des anomalies trachéobronchiques, des contractures de ligaments larges, une syndactylie, des malformations des côtes et une hypoplasie rénale ont été rapportées. Des anomalies cardiaques sont absents dans de rares cas."},"de":{"name":"Kardiokraniales Syndrom Typ Pfeiffer","synonyms":["Kraniosynostose mit kongenitaler Herzerkrankung und Intelligenzminderung","Pfeiffer-Singer-Zschiesche-Syndrom"],"definition":"Das Kardio-kraniale Syndrom Typ Pfeiffer geht mit multiplen angeborenen Anomalien und Intelligenzminderung einher und ist charakterisiert durch Gesichtsdysmorphien (z. B. sagittale Kraniosynostose, Hypertelorismus, Strabismus, tief angesetzte dysplastische Ohren, Retrognathie oder Mikrognathie, Unterkieferankylosen, Gaumenspalte, Aplasia uvulae), angeborene Herzfehler (z. z. B. atrioventrikulärer Septumdefekt, anomaler venöser Rückfluss), Genitalanomalien (z. B. Kryptorchismus, Mikrophallus) sowie Wachstumsverzögerung und intellektueller Beeinträchtigung. In einigen Fällen wird von tracheobronchialen Anomalien, großen Gelenkkontrakturen, Syndaktylie, Rippenanomalien und hypoplastischen Nieren berichtet. Selten werden auch keine Herzanomalien berichtet."},"es":{"name":"Síndrome cardiocraneal tipo Pfeiffer","synonyms":["Síndrome de Pfeiffer-Singer-Zschiesche","Síndrome de craneosinostosis-cardiopatía congénita-discapacidad intelectual"],"definition":"Es un síndrome de múltiples anomalías congénitas con discapacidad intelectual, poco frecuente, caracterizado típicamente por dismorfia facial (craneosinostosis sagital, hipertelorismo, estrabismo, orejas displásicas de implantación baja, retrognatia o micrognatia, anquilosis mandibular, paladar hendido, aplasia uvular), defectos cardíacos congénitos (p. ej., comunicación auriculoventricular, drenaje venoso anómalo), anomalías genitales (p.ej. criptorquidia, microfalo), así como retraso del crecimiento y discapacidad intelectual. En algunos casos se presentan anomalías traqueobronquiales, contracturas de las grandes articulaciones, sindactilia, anomalías de las costillas y riñones hipoplásicos. En algunas ocasiones no se han descrito anomalías cardíacas asociadas."},"it":{"name":"Sindrome cardio-cranica tipo Pfeiffer","synonyms":["Sindrome Pfeiffer-Singer-Zschiesche","Sindrome craniosinostosi-cardiopatia congenita-disabilità intellettiva"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple associata a disabilità intellettiva, caratterizzata da dismorfismi facciali (ad es. craniosinostosi sagittale, ipertelorismo, strabismo, orecchie displastiche a basso impianto, retrognazia o micrognazia, anchilosi mandibolare, palatoschisi aplasia dell'ugola), cardiopatie congenite (ad es. difetto del setto atrioventricolare, ritorno venoso anomalo), anomalie dei genitali (ad es. criptorchidismo e micropene), ritardo della crescita e disabilità intellettiva. Alcuni pazienti presentano anomalie tracheo-bronchiali, contratture delle grandi articolazioni, sindattilia, anomalie delle costole e ipoplasia renale. Solo pochi pazienti non presentano cardiopatie."},"nl":{"name":"Cardiocraniaal syndroom, Pfeiffer-type","synonyms":["Craniosynostose - congenitale hartziekte - intellectuele achterstand-syndroom","Syndroom van Pfeiffer-Singer-Zschiesche"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën en intellectuele achterstand, doorgaans gekarakteriseerd door faciale dysmorfie (e.g. sagittale craniosynostose, hypertelorisme, strabisme, laagstaande en dysplastische oren, retrognathie of micrognathie, mandibulaire ankylose, gespleten verhemelte, aplasie van uvula), congenitale hartdefecten (e.g. atrioventriculair septumdefect, abnormale veneuze terugstroom), genitale anomalieën (e.g. cryptorchisme, micropenis), alsook groeiachterstand en intellectuele beperking. In sommige gevallen worden tracheobronchiale anomalieën, grote gewrichtscontracturen, syndactylie, ribanomalieën en hypoplastische nieren gerapporteerd. In zeldzame gevallen wordt mogelijk geen hartanomalie gerapporteerd."},"pt":{"name":"Síndrome cardio-craniano, tipo Pfeiffer","synonyms":["Síndrome Pfeiffer-Singer-Zschiesche","Síndrome de craniosinostose-cardiopatia congénita-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół sercowo-czaszkowy typu Pfeiffera","synonyms":["Kraniostenoza strzrałkowa z wrodzoną wadą serca, upośledzenie umysłowe i ankyloza żuchwy","Kraniosynostoza - wrodzona choroba serca - niepełnosprawność intelektualna","Zespół Pfeiffera, Singera i Zschieschego"]},"cs":{"name":"Kardiokraniální syndrom, Pfeifferův typ","synonyms":["Syndrom zahrnující kraniosynostózu, vrozenou srdeční vadu a mentální retardaci","Pfeifferův-Singerův-Zschiescheův syndrom","Pfeiffer-Singer-Zschiescheův syndrom"]},"uk":{"name":"Кардіокраніальний синдром, тип Пфайфера","synonyms":["Синдром краніосиностозу - вроджених вад серця - інтелектуальної недостатності","Синдром Пфайфера-Зінгера-Щише"],"definition":"A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported."},"zh":{"name":"心颅综合征，Pfeiffer型","synonyms":["矢状面颅骨狭窄伴先天性心脏病、精神发育迟滞和下颌关节强直"]},"tr":{"name":"Kardiyokraniyal sendrom, Pfeiffer tipi","synonyms":["Pfeiffer-Singer-Zschiesche sendromu","Kraniyosinostozis-doğumsal kalp hastalığı-zihinsel yetersizlik sendromu","Doğumsal kalp hastalığı, zihinsel yetersizlik ve mandibular ankiloz ile seyreden sagital kraniyostenoz"]}},"xrefs":[{"source":"OMIM","code":"218450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"629231429"},{"source":"MONDO","code":"0009036","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535578","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857495","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8586","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"16531733[PMID]_9415478[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16531733[PMID]_9415478[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"2624274[PMID]_3582410[PMID]_8592338[PMID]_9415478[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004442","label":"Sagittal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009540","label":"Contracture of the proximal interphalangeal joint of the 2nd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010621","label":"Cutaneous syndactyly of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002876","label":"Episodic tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008112","label":"Plantar flexion contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010487","label":"Small hypothenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}