Hennekam-Beemer syndrome

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.

Also known as: mastocytosis-short stature-hearing loss syndrome, Hennekam Beemer syndrome, cutaneous mastocytosis, conductive hearing loss and microtia, mastocytosis cutaneous with short stature conductive hearing loss and microtia, skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability, skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation

0 clinical trials for this condition and its sub-types, 0 tagged with Hennekam-Beemer syndrome itself.