{"orpha":217026,"name":"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hadziselimovic syndrome","Microcephaly-faciocardioskeletal syndrome"],"definition":"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217026/","orphanet_url":"https://www.orpha.net/en/disease/detail/217026","names":{"fr":{"name":"Syndrome de microcéphalie-facio-cardio-squelettique, type Hadziselimovic","synonyms":["Syndrome de Hadziselimovic","Syndrome de microcéphalie-faciocardiosquelettique"],"definition":"Syndrome rare avec malformations cardiaques, caractérisé par un retard de croissance prénatal (faible poids à la naissance et petite taille), une hypotonie, un retard de développement et une déficience intellectuelle associés à une microcéphalie et à des anomalies craniofaciales (ligne frontale basse, hypotélorisme, lèvres épaisses et bouche en forme de bouche de carpe, palais ogival, oreilles d'implantation basse), malformations cardiaques (de type tétralogie de Fallot) et squelettiques (hypoplasie des pouces et des premiers métacarpiens)."},"de":{"name":"Mikrozephalie-fazio-kardio-skelettales Syndrom Typ Hadziselimovic","synonyms":["Hadziselimovic-Syndrom","Mikrozephalie-fazio-kardio-skelettales Syndrom"],"definition":"Das Mikrozephalie-fazio-kardio-skelettale Syndrom vom Hadziselimovic-Typ ist ein seltenes Syndrom mit Herzfehlbildungen. Es ist charakterisiert durch pränatale Wachstumsretardierung (geringes Geburtsgewicht und kleine Statur), Hypotonie, Entwicklungsverzögerung und Intelligenzminderung in Assoziation mit Mikrozephalie und kraniofazialen Anomalien (niedriger vorderer Haaransatz, Hypotelorismus, dicke Lippen mit karpfenförmigem Mund, hochgewölbter Gaumen, niedrig angesetzte Ohren), Herzanomalien (konotrunale Herzfehlbildungen wie Fallot-Tetralogie, s.dort) sowie Skelettfehlbildungen (hypoplastische Daumen und erste Mittelhandknochen)."},"es":{"name":"Microcefalia-síndrome facio-cardio-esquelético, tipo Hadziselimovic","synonyms":["Síndrome de Hadziselimovic","Síndrome de microcefalia-faciocardioesquelética"],"definition":"La microcefalia - síndrome facio-cardio-esquelético tipo Hadziselimovic es un síndrome poco frecuente con malformaciones cardíacas (ver este término), caracterizado por un retraso del crecimiento de inicio prenatal (bajo peso al nacimiento y baja estatura), hipotonía, retraso del desarrollo y discapacidad intelectual asociada con microcefalia y anomalías craneofaciales (línea de implantación anterior del cabello baja, hipotelorismo, labios carnosos con boca de carpa, paladar ojival, orejas de implantación baja), cardíacas (malformaciones cardíacas conotruncales tales como la tetralogía de Fallot, ver estos términos) y esqueléticas (pulgares y primeros metacarpianos hipoplásicos)."},"it":{"name":"Microcefalia - sindrome facio-cardio-scheletrica, tipo Hadziselimovic","synonyms":["Sindrome di Hadziselimovic","Sindrome faciocardioscheletrica-microcefalia"],"definition":"La sindrome microcefalia-facio-cardio-scheletrica, tipo Hadziselimovic, è una condizione rara, caratterizzata da cardiopatie congenite (si veda questo termine), ritardo della crescita ad esordio prenatale (scarso peso alla nascita e bassa statura), ipotonia, ritardo dello sviluppo e disabilità cognitiva, associata a microcefalia e anomalie craniofacciali (attaccatura dei capelli anteriore bassa, ipotelorismo, labbra grosse con bocca da carpa, palato ogivale, orecchie basse), cardiopatie (troncoconali, come la tetralogia di Fallot; si vedano questi termini) e difetti scheletrici (ipoplasia dei pollici e dei primi metacarpi)."},"nl":{"name":"Microcefalie - faciocardioskeletaal syndroom, Hadziselimovic-type","synonyms":["Microcefalie - faciocardioskeletaal syndroom","Syndroom van Hadziselimovic"],"definition":"Microcefalie - facio-cardio-skeletaal syndroom, Hadziselimovic-type is een zeldzaam syndroom met hartafwijkingen (zie deze term) dat gekenmerkt wordt door groeiachterstand met prenatale aanvang (laag geboortegewicht en kleine gestalte), hypotonie, ontwikkelingsachterstand en intellectuele beperking geassocieerd met microcefalie, craniofaciale (lage anterieure haarlijn, hypotelorisme, dikke lippen met ''karpermond'', hoog gebogen gehemelte, laag ingeplante oren), hart- (conotruncale hartafwijkingen zoals tetralogie van Fallot; zie deze termen) en skeletale (hypoplastische duimen en eerste metacarpalen) afwijkingen."},"pt":{"name":"Síndrome de microcefalia-síndrome facio-cardio-esquelético, tipo Hadziselimovic"},"pl":{"name":"Zespół twarzowo-sercowo-szkieletowy z makrocefalią","synonyms":["Zespół Hadziselimovica"]},"cs":{"name":"Mikrocefalický faciokardioskeletální syndrom, Hadziselimovičův typ","synonyms":["Mikrocefalie s faciokardioskeletálním syndromem","Hadziselimovičův syndrom"]},"uk":{"name":"Мікроцефалія-фаціально-кардіо-скелетний синдром, тип Хадзіселімовича","synonyms":["Синдром Хадзіселімовича","Мікроцефалія-фаціально-кардіоскелетний синдром"],"definition":"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities."},"zh":{"name":"Hadziselimovic型小头-面-心-骨骼综合征","synonyms":["小头-面-心-骨骼综合征"],"definition":"小头-面-心脏-骨骼综合征Hadziselimovic型是一种伴心脏畸形的罕见综合征（见该词条），其特征是产前发育迟缓（低出生体重和身材矮小）、肌张力低下、发育迟缓和智力障碍，伴有小头畸形和颅面畸形（前发际线低，斜视、厚唇、鲤鱼形嘴、高腭弓、低位耳）、心脏异常（圆锥动脉干畸形，如法洛四联症；见这些词条）和骨骼异常（拇指和第一掌骨发育不良）。"},"tr":{"name":"Mikrosefali-fasiyo-kardiyo-iskelet sendromu, Hadziselimovic tipi","synonyms":["Hadziselimovic sendromu","Mikrosefali-fasiyokardiyoskeletal sendrom"]}},"xrefs":[{"source":"OMIM","code":"612946","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":"1772312649"},{"source":"MONDO","code":"0013053","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11152145[PMID]_19373080[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11152145[PMID]_19373080[PMID]"}],"phenotypes":null}