Pseudothalidomide syndrome

Pseudothalidomide Syndrome

Pseudothalidomide syndrome, also known as "Roberts syndrome," is a rare genetic disorder characterized by limb and facial abnormalities. It is often confused with the effects of thalidomide exposure, hence the name "pseudothalidomide." This condition is inherited in an autosomal recessive pattern and is associated with mutations in the ESCO2 gene.

Clinical Features

Individuals with pseudothalidomide syndrome typically present with a range of physical anomalies, including:

• Limb Abnormalities: These can include phocomelia (shortened limbs), oligodactyly (fewer than five fingers or toes), and syndactyly (fusion of fingers or toes).
• Craniofacial Anomalies: These may involve cleft lip and palate, micrognathia (small jaw), and hypertelorism (wide-set eyes).
• Growth Retardation: Affected individuals often exhibit prenatal and postnatal growth deficiency.
• Intellectual Disability: Some individuals may have developmental delays or intellectual disabilities.

Genetic Basis

Pseudothalidomide syndrome is caused by mutations in the ESCO2 gene, which is located on chromosome 8. The ESCO2 gene is responsible for encoding a protein involved in the establishment of sister chromatid cohesion during cell division. Mutations in this gene disrupt normal chromosomal segregation, leading to the clinical manifestations of the syndrome.

Diagnosis

Diagnosis of pseudothalidomide syndrome is based on clinical evaluation and genetic testing. The presence of characteristic physical features, along with molecular genetic testing to identify mutations in the ESCO2 gene, confirms the diagnosis.

Management

There is no cure for pseudothalidomide syndrome, and treatment is primarily supportive. Management may include:

• Surgical Interventions: To correct limb and craniofacial anomalies.
• Physical Therapy: To improve mobility and function.
• Educational Support: For individuals with intellectual disabilities.

Prognosis

The prognosis for individuals with pseudothalidomide syndrome varies depending on the severity of the condition. Early intervention and supportive care can improve quality of life and functional outcomes.

Research and Future Directions

Ongoing research aims to better understand the molecular mechanisms underlying pseudothalidomide syndrome and to develop potential therapeutic strategies. Advances in genetic research may lead to improved diagnostic techniques and targeted treatments in the future.

See Also

• Thalidomide
• Genetic Disorders
• Craniofacial Anomalies

External Links

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

NIH genetic and rare disease info

• NIH info on Pseudothalidomide syndrome

Pseudothalidomide syndrome is a rare disease.