Hennekam-Beemer syndrome

Rare Disease

MONDO:0009569

Also Known As

mastocytosis-short stature-hearing loss syndromeHennekam Beemer syndromecutaneous mastocytosis, conductive hearing loss and microtiamastocytosis cutaneous with short stature conductive hearing loss and microtiaskin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disabilityskin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation

Definition

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.