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Macrocephaly-capillary malformation in Infant/Neonate
Other Resources UpToDate PubMed

Macrocephaly-capillary malformation in Infant/Neonate

Contributors: Caitlin M. Peterman MD, Maria Cordisco MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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).

Codes

ICD10CM:
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
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Macrocephaly-capillary malformation in Infant/Neonate
A medical illustration showing key findings of Macrocephaly-capillary malformation : Hyperextensible skin, Reticular configuration, Vascular plaque, Macrocephaly
Clinical image of Macrocephaly-capillary malformation - imageId=6558403. Click to open in gallery.  caption: 'Reticulate and mottled patches and plaques on the legs.'
Reticulate and mottled patches and plaques on the legs.
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