Microcephaly-capillary malformation syndrome

Definition:

Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay, and multiple small capillary malformations on the skin. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. Dysmorphic features include whorled hair pattern, low frontal hairline, hypertelorism, ptosis, epicanthic folds, long palpebral fissures, cleft palate, thin upper lip, short nose, low-set ears, and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.

References:

[1]. Eissa A Faqeih, et al. Novel STAMBP mutation and additional findings in an Arabic family. Am J Med Genet A. 2015 Apr;167A(4):805-9. [Content Brief]

[2]. Ghayda M Mirzaa, et al. The microcephaly-capillary malformation syndrome. Am J Med Genet A. 2011 Sep;155A(9):2080-7. [Content Brief]

[3]. Laura M McDonell, et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62. [Content Brief]

[4]. Melissa T Carter, et al. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A. 2011 Feb;155A(2):301-6. [Content Brief]

[5]. Milen Pavlović, et al. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. Pediatr Neurol. 2014 Oct;51(4):560-5. [Content Brief]

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