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Wiedemann-Rautenstrauch syndrome

Orpha number ORPHA3455
Synonym(s) Neonatal progeroid syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E34.8
OMIM
UMLS
  • C0406586
MeSH
  • C536423
MedDRA -
SNOMED CT
  • 238874008

Summary

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

More than 30 patients have been reported.

Dysmorphism includes triangular old-looking face, relatively large skull with large anterior fontanelle and prominent veins especially on the scalp, sparse scalp hair, decreased eyebrows and eyelashes, and micrognathia. Natal teeth represent a common, but variable finding. The clinical spectrum is broad but intrauterine growth retardation and decreased subcutaneous fat have been reported as cardinal features. Mild to moderate intellectual deficit is common. The syndrome is usually lethal by seven months but, on rare occasions, patients have survived into the teens.

Etiology remains unknown. An increased chromosomal breakage, observed in some cases, suggests that DNA repair defects could be involved in the pathogenesis of this disorder.

An autosomal recessive pattern of inheritance is probable.


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