Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.

Also known as: agammaglobulinemia, microcephaly, and severe dermatitis

41 clinical trials for this condition and its sub-types, 0 tagged with Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome itself.