Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
| Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | |
|---|---|
| Other names | Agammaglobulinemia, microcephaly, and severe dermatitis |
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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[edit]
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[edit]
This condition is known to be genetic, but the gene(s) responsible are yet to be identified.
References[edit]
- ^ a b "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. Retrieved 2023-10-04.
- ^ Crow, Yanick Joseph; Goodship, J. A.; Wright, C.; Coady, A. M.; Conley, M. E.; Gennery, A. R. (2006-06-01). "A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features". American Journal of Medical Genetics. Part A. 140 (11): 1131–1135. doi:10.1002/ajmg.a.31275. ISSN 1552-4825. PMID 16691627.
- ^ "Entry - %610483 - Agammaglobulinemia, Microcephaly, and Severe Dermatitis - OMIM". www.omim.org. Retrieved 2023-10-04.