Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Progeria diagnostic study of choice
Introduction
Overview
Overview
There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS).
Diagnostic Study of Choice
Diagnostic Study of Choice
- There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS), but Hutchinson-Gilford progeria syndrome (HGPS) can be diagnosed based on clinical presentation and genetic testing of the gene LMNA gene (c.1824C>T[p.Gly608Gly]).
- The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on the clinical presentation, which include the following:
- Failure to thrive in the first year of life
- Very peculiar facial presentation which include:
- Micrognathia(Jaw is undersized)
- Prominent eyes(protruding eyes)
- Circumoral cyanosis(blue discoloration around the mouth)
- Alopecia
- Prominent scalp veins
- Sclerotic skin changes
- Joint contractures
- Decreased range of motion in the joints
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]