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.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM
タイトル
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
