You are using an outdated browser. Please upgrade your browser to improve your experience.

Hennekam-Beemer syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009569:  Hennekam-Beemer syndrome
GARD:0003409: 
MESH:C536033: 
Orphanet:2135: 
SCTID:722453009: 
UMLS:CN201032: