| 词条 | Menke-Hennekam syndrome |
| 释义 |
| name = Menke-Hennekam syndrome | synonyms = | image = Autosomal dominant - en.svg | caption = Autosomal dominant pattern is the inheritance manner of this condition | pronounce = | field = Medical genetics | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the CREBBP gene | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} This is a rare condition characterised by a constellation of lesions mostly involving the brain. Signs and symptomsThe feature of this condition include
GeneticsThis condition has been associated with mutations in the CREB binding protein gene (CREBBP). This gene is located on the short arm of chromosome 16 (16p13.3). PathopysiologyThis is not understood. DiagnosisThis syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the CREBBP gene. Differential diagnosis
TreatmentThere is no specific treatment for this condition. Management is supportive. EpidemiologyThis condition is considered to be rare with less than 20 cases reported in the literature. HistoryThis condition was first described in 2019.[1] References1. ^Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J (2019) Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A 3 : Genetic diseases and disorders|Rare syndromes|Autosomal dominant disorders |
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