Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Synonyms: FILS syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead immunodeficiency resulting in recurrent infections impaired growth (with normal growth hormone production and response) resulting in short stature and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts decreased T cell proliferation and reduced IgM IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Facial dysmorphism-immunodeficiency-livedo-short stature syndrome?
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
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.
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