Wiedemann-Rautenstrauch syndrome

=Wiedemann-Rautenstrauch Syndrome = Wiedemann-Rautenstrauch Syndrome (WRS), also known as Neonatal Progeroid Syndrome, is a rare genetic disorder characterized by features resembling accelerated aging in newborns. This condition is extremely rare, with only a few dozen cases reported worldwide.

Clinical Features

Individuals with Wiedemann-Rautenstrauch Syndrome typically present with:

• Growth Retardation: Infants are often born with low birth weight and exhibit poor postnatal growth.
• Progeroid Appearance: Features include a triangular face, prominent scalp veins, and a large head relative to body size.
• Lipodystrophy: There is a notable lack of subcutaneous fat, contributing to the aged appearance.
• Dental Anomalies: Delayed eruption of teeth and dental crowding are common.
• Neurological Issues: Developmental delays and intellectual disabilities may be present.

Genetic Basis

Wiedemann-Rautenstrauch Syndrome is believed to be caused by mutations in the POLR3A gene, which encodes a subunit of RNA polymerase III. This enzyme is crucial for the transcription of small RNAs, and mutations can disrupt normal cellular function.

Diagnosis

Diagnosis of WRS is primarily clinical, based on the characteristic physical features. Genetic testing can confirm mutations in the POLR3A gene, supporting the diagnosis.

Management

There is no cure for Wiedemann-Rautenstrauch Syndrome. Management focuses on symptomatic treatment and supportive care, including:

• Nutritional support to address growth issues.
• Physical and occupational therapy to aid in developmental progress.
• Regular monitoring for potential complications such as cardiac or respiratory issues.

Prognosis

The prognosis for individuals with Wiedemann-Rautenstrauch Syndrome varies. Many affected individuals have a shortened lifespan, although some may live into adolescence or adulthood with appropriate care.

Research and Future Directions

Research into Wiedemann-Rautenstrauch Syndrome is ongoing, with studies focusing on understanding the molecular mechanisms underlying the condition and exploring potential therapeutic approaches.

See Also

• Progeria
• Lipodystrophy
• Genetic Disorders

External Links

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

NIH genetic and rare disease info

• NIH info on Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a rare disease.