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B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
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Disease definition
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.
ORPHA:567502
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) (50)
- Clinical trial(s) (1)
- Biobank(s) (11)
- Registry(ies) (33)
- Network of experts (8)
Newborn screening
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