Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

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.

Signs and symptoms
Features of this condition include: Distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy have also been reported.
 * Agammaglobulinemia associated with severe developmental delay
 * Microcephaly
 * Craniosynostosis
 * Cleft palate
 * Narrowing of the choanae
 * Blepharophimosis
 * Severe dermatitis

Causes
This condition is known to be genetic, but the gene(s) responsible are yet to be identified.