Английская Википедия:Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
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Шаблон:Infobox medical condition 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.[1] The condition was first identified in a 2006 report.[2][3]
Signs and symptoms
Features of this condition include:[1]
- 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
