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 distinct from other progeroid syndromes due to its onset at birth and specific clinical manifestations.

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.
• Craniofacial Abnormalities: These may include a triangular face, prominent scalp veins, and a large anterior fontanelle.
• Lipodystrophy: A significant loss of subcutaneous fat, particularly in the face, giving a prematurely aged appearance.
• Dental Anomalies: Delayed eruption of teeth and dental crowding are common.
• Neurological Features: Some individuals may experience developmental delays and intellectual disabilities.

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 features observed at birth. Genetic testing can confirm mutations in the POLR3A gene, supporting the diagnosis.

Management

There is no cure for Wiedemann-Rautenstrauch Syndrome, and treatment is symptomatic. Management strategies may include:

• Nutritional Support: To address growth retardation and feeding difficulties.
• Physical Therapy: To improve motor skills and address developmental delays.
• Regular Monitoring: To manage and monitor potential complications such as dental issues and neurological development.

Prognosis

The prognosis for individuals with Wiedemann-Rautenstrauch Syndrome varies. While some may have a shortened lifespan due to complications, others may live into adulthood with supportive care.

Research and Future Directions

Ongoing research aims to better understand the genetic and molecular mechanisms underlying WRS. Advances in genetic therapies and personalized medicine hold potential for future treatment options.

See Also

• Progeroid Syndromes
• Lipodystrophy
• Genetic Disorders

External Links

• Genetic and Rare Diseases Information Center
• National Organization for Rare Disorders

NIH genetic and rare disease info

• NIH info on Wiedemann Rautenstrauch syndrome

Wiedemann Rautenstrauch syndrome is a rare disease.