Menke-Hennekam syndrome

Menke-Hennekam syndrome
Menke-Hennekam syndrome
	Autosomal dominant pattern is the inheritance manner of this condition
Specialty	Medical genetics
Causes	Mutations in the CREBBP gene

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

Signs and symptoms

The feature of this condition include

Microcephaly
Ventriculomegaly
Absent corpus callosum
Autistic behavior
Feeding problems
Epilepsy
Variable intellectual disability
Staphyloma
Cochlear malformations
Mild hearing impairment
Exomphalos
Short stature
Recurrent upper airway infections

Genetics

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

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

Diagnosis

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

Differential diagnosis

Rubinstein-Taybi syndrome

Treatment

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

Epidemiology

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

History

This condition was first described in 2019.^[1]

References

^ 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

[Ruijs2019-1] 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

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