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Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
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Disease definition
A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.
ORPHA:83617
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (58)
- Clinical trial(s) (1)
- Biobank(s) (13)
- Registry(ies) (36)
- Network of experts (10)
Newborn screening
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