Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Engelsk navn: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Engelske synonym: FILS syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 352712
Klassifiseringsnivå: Disorder
ICD-10: Q87.1
