Conditions / Syndrome
progeria
info · Syndrome · ICD-10: E34.8
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA g
A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.
Signs and symptoms
- Alopecia
- Angina pectoris
- Malar flattening
- Generalized osteoporosis
- Midface retrusion
- Premature coronary artery atherosclerosis
- Absence of subcutaneous fat
- Myocardial infarction
- Congestive heart failure
- Growth delay
Also known as: HGPS; Hutchinson Gilford syndrome; Hutchinson-Gilford Progeria syndrome; Hutchinson-Gilford disease