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.

Toe syndactyly

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".


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PMID (PMCID)
15337471
MALE Infant, Newborn
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.
Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR.
Ann Genet. 2004;47(3):261-5.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth.
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.