Atypical Werner syndrome
Don’t fight Atypical Werner syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Atypical Werner syndrome and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79474
Definition
An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
Epidemiology
The prevalence is unknown.
Clinical description
Atypical WS shows accelerated aging characterized by short stature, thinning/graying of hair, a ''bird-like'' facial appearance, skin atrophy, lipodystrophy, myopathy along with other age-related disorders such as osteoporosis and atherosclerosis. Compared to WS, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. Cataracts are often not present.
Etiology
A subset of atypical WS is caused by the mutation of the LMNA gene, the same causal gene seen in Hutchinson-Gilford progeria syndrome (HGPS; see this term) that codes for the nuclear intermediate filament, lamin A/C. The LMNA type of atypical WS follows an autosomal dominant pattern of inheritance. Additional causes of atypical WS are being discovered, and their inheritance patterns elucidated.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Exercise-induced myalgia |
| Abnormal parietal bone morphology |
| Developmental cataract |
| Finger clinodactyly |
| Hip dysplasia |
| Mitral valve prolapse |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Connect with other users with Atypical Werner syndrome on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
