Macrocephaly-capillary malformation in Infant/Neonate
Synopsis

M-CM is caused by a somatic mutation in PIK3CA. As such, there are no known risk factors or predisposing medical history. Reports are mixed regarding sex predominance. The condition is rare, with fewer than 200 cases in the literature.
M-CM was initially labeled as macrocephaly-cutis marmorata telangiectasia congenita (M-CMTC). The name was changed to M-CM when it was realized these patients had a CM rather than cutis marmorata telangiectasia congenita. Older literature may describe patients with M-CM as having M-CMTC, or may use another term, megalencephaly-capillary malformation-polymicrogyria (MCAP).
Codes
Q87.3 – Congenital malformation syndromes involving early overgrowth
SNOMEDCT:
431770003 – Fetal macrocephaly
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Last Updated:09/30/2019