Progeroid Syndrome, Neonatal

Alternative Names

  • Wiedemann-Rautenstrauch Syndrome
  • Neonatal Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch
  • Rautenstrauch-Wiedemann Type Neonatal Progeria
  • Rautenstrauch-Wiedemann Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

264090

Mode of Inheritance

Autosomal recessive

Description

Neonatal progeroid syndrome is an extremely rare autosomal recessive disorder that is characterized by progeroid features from birth with multiple somatic anomalies and paucity of subcutaneous fat, causing the skin to appear abnormally thin, fragile, and wrinkled, in addition to distinctive craniofacial malformations . 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
264090.1.1PalestineMaleYesYes Progeroid facial appearance; Lack of fac...NM_007055.4:c.1800C>T, NM_007055.4:c.[1909+22G>A;3337-11T>C]HeterozygousAutosomal, RecessiveAkawi et al. 2013; Paolacci et al. 2018
264090.1.2PalestineFemaleYesYes Progeroid facial appearance; Lack of fac...NM_007055.4:c.1800C>T, NM_007055.4:c.[1909+22G>A;3337-11T>C]HeterozygousAutosomal, RecessiveAkawi et al. 2013; Paolacci et al. 2018 Sister of 264090.1.1
264090.1.3PalestineMaleYesYes Progeroid facial appearance; Lack of fac...NM_007055.4:c.1800C>T, NM_007055.4:c.[1909+22G>A;3337-11T>C]HeterozygousAutosomal, RecessiveAkawi et al. 2013; Paolacci et al. 2018 Brother of 264090.1....

Other Reports

Palestine

Megarbane and Loiselet (1997) reported a Palestinian girl in Lebanon with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs, and severe pulmonary stenosis. Parents were consanguineous she had an older affceted sister. 

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