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Hutchinson-Gilford progeria syndrome
rareHutchinson-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).
- Identifiers
- MONDO:0008310 OMIM:176670Orphanet:740
- Causal genes
- LMNA
- Also known as
- HGPS · Hutchinson Gilford progeria syndrome · Hutchinson-Gilford disease · Hutchinson-Gilford progeria · premature senility syndrome
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