Синдром агаммаглобулінемії-мікроцефалії-краніосиностозу-тяжкого дерматиту

Визначення(English summary)

A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.