Macrocephaly-capillary malformation (M-CM) consists of an enlarged head circumference and reticular capillary malformation (CM) of the face (usually central), trunk, and/or extremities. Soft tissue and/or bony overgrowth is common. Patients are often hypotonic at birth and may have developmental delay, although seizures are not seen.
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).
Macrocephaly-capillary malformation in Child
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Synopsis
Codes
ICD10CM:
Q87.3 – Congenital malformation syndromes involving early overgrowth
SNOMEDCT:
431770003 – Fetal macrocephaly
Q87.3 – Congenital malformation syndromes involving early overgrowth
SNOMEDCT:
431770003 – Fetal macrocephaly
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Last Reviewed:02/12/2017
Last Updated:09/30/2019
Last Updated:09/30/2019
Macrocephaly-capillary malformation in Child