facial dysmorphism-immunodeficiency-livedo-short stature syndrome
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 analyzes 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.
MONDO:0003847
hereditary disease
is_a
facial dysmorphism, immunodeficiency, livedo, and short stature
related
fils
related
fils syndrome
exact
SPBC25H2.13c