Progeroid syndrome De Barsy type

Progeroid syndrome De Barsy type is a rare genetic disorder characterized by an aged appearance at birth, growth retardation, and intellectual disability. The syndrome is named after the Belgian pediatrician Albert De Barsy, who first described the condition in 1968.

Symptoms and Signs

The most noticeable symptom of Progeroid syndrome De Barsy type is the premature aging appearance of the affected individuals. This includes wrinkled skin, a thin nose, and a small jaw. Other symptoms include intellectual disability, growth retardation, and cataracts. The severity of these symptoms can vary greatly among individuals.

Causes

Progeroid syndrome De Barsy type is caused by mutations in the PYCR1 gene. This gene provides instructions for making an enzyme that is involved in the production of proline, an amino acid that is a building block of proteins. Mutations in the PYCR1 gene disrupt the normal function of the enzyme, leading to the symptoms of Progeroid syndrome De Barsy type.

Diagnosis

Diagnosis of Progeroid syndrome De Barsy type is based on the physical symptoms and confirmed by genetic testing. The testing involves sequencing the PYCR1 gene to identify any mutations.

Treatment

There is currently no cure for Progeroid syndrome De Barsy type. Treatment is focused on managing the symptoms and improving the quality of life of the affected individuals. This may include physical therapy for muscle weakness, special education for intellectual disability, and surgery for cataracts.

Prognosis

The prognosis for individuals with Progeroid syndrome De Barsy type varies depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as heart disease.

See Also

• Progeria
• Werner syndrome
• Hutchinson-Gilford progeria syndrome

NIH genetic and rare disease info

• NIH info on Progeroid syndrome De Barsy type

Progeroid syndrome De Barsy type is a rare disease.

Progeroid syndrome De Barsy type Resources
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