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Atypical Werner syndrome

Orpha number ORPHA79474
Synonym(s) Atypical progeroid syndrome
Prevalence -
Inheritance Unknown
Autosomal dominant
Age of onset -
ICD-10
  • E34.8
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) 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.

The prevalence is unknown.

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.

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.

Expert reviewer(s)

  • Dr Fuki M. HISAMA
  • Dr George M. MARTIN
  • Dr Junko OSHIMA

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