Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Other Names: Hennekam Beemer syndrome; Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation Hennekam-Beemer is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), , , conductive , 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 .
NIH genetic and rare disease info[edit source]
Mastocytosis cutaneous with short stature conductive hearing loss and microtia is a rare disease.
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