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Hennekam-Beemer syndrome

rare

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.

Identifiers
MONDO:0009569 OMIM:248910Orphanet:2135
Part of
Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Also known as
Hennekam Beemer syndrome · mastocytosis cutaneous with short stature conductive hearing loss and microtia · mastocytosis-short stature-hearing loss syndrome · skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability · skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation

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