Synonyms: BILU syndrome | Hoffman syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome?
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Advocacy Organizations
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Immunocompromised Association
Immunocompromised Association promotes awareness, education, and support for immunocompromised individuals to reduce their inherent health risks in the community.
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
accessia health
Accessia Health, a national charitable patient assistance organization, is dedicated to eliminating healthcare barriers for people with rare or chronic health conditions. Comprehensive services include personalized case management, financial assistance, education, and legal aid support. Our flexible funding model goes beyond copays, allowing individuals to pay for other essential medical expenses
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Clinical Trials
For a list of clinical trials in this disease area, please click here.