Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015333
progeroid syndrome
is_a
MONDO:0019707
primary osteolysis
is_a
MONDO:0021106
laminopathy
is_a
HGPS
exact
Hutchinson Gilford progeria syndrome
related
Hutchinson-Gilford disease
exact
Hutchinson-Gilford progeria
exact
Hutchinson-Gilford progeria syndrome
exact
premature senility syndrome
exact
progeria
broad