Hutchinson-Gilford progeria syndrome

Orpha code: 740OMIM code: 176670

Definicja

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).

Disease data
Klasyfikacja

Disease

Synonimy
HGPS
Progeria
Progeria
Kod ORPHA
740
Kod OMIM
176670
Kod ICD10
E34.8
Kod ICD11
LD2B

No additional description.

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