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Progeria in Child
Other Resources UpToDate PubMed

Progeria in Child

Contributors: Amy Fox MD, David Dasher MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Progeria, also known as Hutchinson-Gilford syndrome, is a rare disease of accelerated aging associated with a mutation in the nuclear envelope protein lamin A. Patients typically appear normal at birth but develop, often within the first 1-2 years of life, the characteristic facial features and sclerodermoid skin changes. These patients have short stature, poor weight gain, and failure to thrive in addition to changes classically found in the elderly, including osteoporosis and atherosclerosis.

Characteristic facial features of progeria include loss of subcutaneous fat, a thin "beaked" nose, and a large cranium with sparse hair. Patients have a high-pitched voice and normal intelligence.

Progeria is a chronic and progressive disease. Most patients succumb to atherosclerotic complications by the second decade of life.

In November 2020, the US Food and Drug Administration (FDA) approved the first treatment to reduce the risk of mortality in patients with progeria.

Codes

ICD10CM:
E34.8 – Other specified endocrine disorders

SNOMEDCT:
238870004 – Progeria

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Last Updated:01/20/2022
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Progeria in Child
A medical illustration showing key findings of Progeria : Failure to thrive, Joint stiffness, Micrognathia, Teeth abnormalities, Widespread non-scarring alopecia
Clinical image of Progeria - imageId=1473531. Click to open in gallery.  caption: 'A large cranium, frontal bossing, loss of subcutaneous fat, and sparse eyebrows.'
A large cranium, frontal bossing, loss of subcutaneous fat, and sparse eyebrows.
Copyright © 2024 VisualDx®. All rights reserved.