Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Postaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


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PMID (PMCID)
11477607
MIXED_SAMPLE Infant
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Yano S, Watanabe Y.
Am J Med Genet. 2001;102(2):149-52.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.