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Синдром прогерії Хатчинсона-Гілфорда

ORPHA:740· ICD-10 E34.8· Hutchinson-Gilford progeria syndrome

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Infancy, Neonatal