Hennekam-Beemer syndrome https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia https://www.malacards.org/card/cutaneous_mastocytosis_conductive_hearing_loss_and_microtia MEDGEN:462843 MESH:C536033 OMIM:248910 SCTID:722453009 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. cutaneous mastocytosis, conductive hearing loss and microtia Orphanet:2135 GARD:0003409 skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability MONDO:0009569 ICD10CM:Q82.2 UMLS:C3151493 mastocytosis cutaneous with short stature conductive hearing loss and microtia mastocytosis-short stature-hearing loss syndrome Hennekam Beemer syndrome skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome