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Menke-Hennekam syndrome

From Wikipedia, the free encyclopedia
Menke-Hennekam syndrome
Autosomal dominant pattern is the inheritance manner of this condition
SpecialtyMedical genetics
CausesMutations in the CREBBP gene

Menke-Hennekam syndrome is a rare condition characterised by a constellation of lesions mostly involving the brain.

Signs and symptoms

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The feature of this condition include

Genetics

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This 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).

Pathopysiology

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The pathogenesis of this condition is not understood.[citation needed]

Diagnosis

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This syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the CREBBP gene.[citation needed]

Differential diagnosis

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Treatment

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There is no specific treatment for this condition. Management is supportive.[citation needed]

Epidemiology

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This condition is considered to be rare with less than 20 cases reported in the literature.[citation needed]

History

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This condition was first described in 2019.[1]

References

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  1. ^ 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