{"orpha":324416,"name":"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324416/","orphanet_url":"https://www.orpha.net/en/disease/detail/324416","names":{"fr":{"name":"Syndrome d'hypertrophie musculaire-hépatomégalie-polyhydramnios","definition":"Maladie génétique rare caractérisée par une hypertrophie musculaire symétrique, une hépatomégalie, un polyhydramnios, une macrocéphalie et un léger retard dans le développement de la motricité, de la parole et du langage."},"de":{"name":"Muskelhypertrophie-Hepatomegalie-Polyhydramnion-Syndrom"},"es":{"name":"Síndrome de hipertrofia muscular-hepatomegalia-polihidramnios","definition":"Es una enfermedad genética poco frecuente caracterizada por hipertrofia muscular simétrica, hepatomegalia, polihidramnios, macrocefalia y retraso leve del desarrollo motor, del habla y del lenguaje."},"it":{"name":"Sindrome ipertrofia muscolare, epatomegalia, polidramnios","definition":"La sindrome che associa l'ipertrofia muscolare, l'epatomegalia e il polidramnios è una malattia genetica rara, caratterizzata da ipertrofia muscolare simmetrica, epatomegalia, polidramnios, macrocefalia e lieve ritardo dello sviluppo motorio e del linguaggio."},"nl":{"name":"Musculaire hypertrofie - hepatomegalie - polyhydramnion-syndroom","definition":"Musculaire hypertrofie - hepatomegalie - polyhydramnion-syndroom is een zeldzame, genetische ziekte die gekarakteriseerd wordt door symmetrische spierhypertrofie, hepatomegalie, polyhydramnion, macrocefalie en milde vertraging van de motorische ontwikkeling en de spraak- en taalontwikkeling."},"pt":{"name":"Hipertrofia muscular – hepatomegália - polihidrâmnio"},"pl":{"name":"Przerost mięśni- hepatomegalia - wielowodzie","definition":"*Zespół przerost mięśni- hepatomegalia - wielowodzie jest rzadką, genetycznie uwarunkowaną chorobą, która charakteryzuje się symetrycznym przerostem mięśni, powiększeniem wątroby, wielowodziem, makrocefalią oraz łagodnym opóźnieniem rozwoju ruchowego, mowy i umiejętności językowych."},"cs":{"name":"Syndrom zahrnující svalovou hypertrofii, hepatomegalii a polyhydramnion"},"uk":{"name":"Синдром мязової гіпертрофії-гепатомегалії-полігідрамніону","definition":"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development."},"zh":{"name":"肌肉肥大-肝肿大-羊水过多综合征","definition":"肌肉肥大-肝大-羊水过多综合征是一种罕见的遗传性疾病，其特征为对称的肌肉肥大，肝肿大，羊水过多，巨颅畸形和运动、言语和语言发育的轻度延迟。"},"tr":{"name":"Müsküler hipertrofi-hepatomegali-polihidraminoz sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751007","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22683912[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":"2016-10-25","source":"2494887[PMID]","terms":[{"hpo":"HP:0002438","label":"Cerebellar malformation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007700","label":"Ocular anterior segment dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007260","label":"Type II lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004488","label":"Macrocephaly at birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null}]}}