menke-hennekam syndrome menke-hennekam syndrome menke-hennekam syndrome is a rare condition characterised by a constellation of lesions mostly involving the brain. menke-hennekam syndromeautosomal dominant pattern is the inheritance manner of this conditionspecialtymedical geneticscausesmutations in the crebbp gene 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. diagnosis this syndrome may be suspected on clinical grounds. the diagnosis is established by sequencing the crebbp gene. differential diagnosis rubinstein-taybi syndrome treatment there is no specific treatment for this condition. management is supportive. epidemiology this condition is considered to be rare with less than 20 cases reported in the literature. history this condition was first described in 2019.