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 Infant/Neonate
Alerts and Notices
Important News & Links
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
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:02/12/2017
Last Updated:09/30/2019
Last Updated:09/30/2019
Macrocephaly-capillary malformation in Infant/Neonate
