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Neonatal pseudo-hydrocephalic progeroid syndrome

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Description

Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

27

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Genes

External Links

  • OMIM

    264090

  • Orphanet

    3455

  • HPO
  • Medgen

    C0406586

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