Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is caused by profound B-cell depletion with normal T-cell numbers. The condition was first identified in a 2006 report.
__TOC__ Signs and symptoms Features of this condition include: Agammaglobulinemia associated with severe developmental delay Microcephaly Craniosynostosis Cleft palate Narrowing of the choanae Blepharophimosis Severe dermatitis Distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy have also been reported.
Causes This condition is known to be genetic, but the gene(s) responsible are yet to be identified. References