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.
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
Hennekam Beemer syndrome
related
mastocytosis cutaneous with short stature conductive hearing loss and microtia
related
mastocytosis-short stature-hearing loss syndrome
exact
skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability
related
skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation
related