FaCD Online Syndrome Fact Sheet

Last updated: 28 Mar 2008

Name: Macrocephaly-Cutis Marmorata syndrome

Synonym: Megalencephaly-Cutis Marmorata Telangiectatica Congenita, M-CMTC, Macrocephaly-Capillary malformation, M-CM

Mode of Inheritance: AD

Tumor features

cutaneous hemangioma

Tumor features (possible)

leukemia, acute
meningioma
retinoblastoma
Wilms' tumor (nephroblastoma)

Non-tumor features

cutaneous telangiectasia
developmental delay/mental deficiency/mental retardation
frontal bossing / prominent forehead
hemihypertrophy
high birth weight
hydrocephalus
hypotonia
joint laxity
macrocephaly
syndactyly of toes

Comment

This overgrowth disorder features macrocephaly, cutis marmorata, hemangiomas of lip and philtrum, syndactyly, hemihypertrophy, developmental delay and CNS structural anomalies[1,3]. A few tumors have been reported in patients with this syndrome: Wilms tumor (0-10 months)[4], retinoblastoma[2], meningioma (at 21 months)[3] and acute leukemia (at 18 yrs)[3].

References

[1] Katugampola R, Moss C, Mills C. Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. Journal of the American Academy of Dermatology 2008; 58(4):697-702.
[2] Schwartz IV, Felix TM, Riegel M, Schüler-Faccini L. Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma. Clinical dysmorphology 2002; 11(3):199-202.
[3] Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. American journal of medical genetics. Part A 2004; 130(1):45-51.
[4] Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. American journal of medical genetics 1997; 70(1):67-73.