De Barsy syndrome

Autosomal recessive - en

De Barsy syndrome is a rare genetic disorder characterized by a variety of symptoms that can affect multiple systems of the body. It is also known as cutis laxa with growth retardation and progeroid features. The syndrome was first described by Dr. Jean de Barsy in 1968.

Clinical Features

Individuals with De Barsy syndrome typically present with a combination of the following features:

• Cutis laxa: Loose, wrinkled skin that lacks elasticity.
• Growth retardation: Delayed growth and development.
• Progeroid features: Premature aging appearance.
• Ophthalmologic abnormalities: Including cataracts, glaucoma, and microcornea.
• Neurological abnormalities: Such as intellectual disability, seizures, and hypotonia.
• Skeletal abnormalities: Including joint hypermobility, kyphoscoliosis, and osteopenia.

Genetics

De Barsy syndrome is inherited in an autosomal recessive manner. Mutations in the PYCR1 gene have been identified in some individuals with the syndrome. The PYCR1 gene is involved in the synthesis of proline, an amino acid important for the stability of collagen and other proteins.

Diagnosis

The diagnosis of De Barsy syndrome is based on clinical evaluation, detailed patient history, and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the PYCR1 gene or other related genes.

Management

There is no cure for De Barsy syndrome, and treatment is symptomatic and supportive. Management may include:

• Regular monitoring and treatment of ophthalmologic abnormalities.
• Physical therapy to improve muscle tone and joint mobility.
• Educational support for individuals with intellectual disability.
• Regular follow-up with a multidisciplinary team of specialists.

Prognosis

The prognosis for individuals with De Barsy syndrome varies depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Cutis laxa
• Growth retardation
• Progeroid syndromes
• Autosomal recessive inheritance
• Genetic testing

References

Medical condition