Pashayan syndrome

Autosomal dominant - en

Pashayan syndrome is a rare genetic disorder characterized by a combination of physical abnormalities and developmental delays. The syndrome was first described by Dr. Haroutune Krikor Pashayan in the late 20th century.

Clinical Features

Individuals with Pashayan syndrome typically present with a variety of clinical features, which may include:

• Craniofacial abnormalities such as microcephaly, hypertelorism, and cleft palate.
• Skeletal anomalies including short stature, scoliosis, and joint hypermobility.
• Developmental delays and intellectual disability.
• Congenital heart defects such as ventricular septal defect and atrial septal defect.
• Ocular abnormalities including strabismus and cataracts.

Genetics

Pashayan syndrome is believed to follow an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in Pashayan syndrome have not yet been identified.

Diagnosis

The diagnosis of Pashayan syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar syndromes.

Management

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

• Surgical intervention for craniofacial and skeletal abnormalities.
• Physical therapy and occupational therapy to improve motor skills and daily functioning.
• Special education services to address developmental and intellectual disabilities.
• Regular monitoring and treatment of congenital heart defects and other associated medical conditions.

Prognosis

The prognosis for individuals with Pashayan syndrome varies depending on the severity of the symptoms and the presence of associated medical conditions. Early intervention and supportive care can improve the quality of life for affected individuals.

See Also

• Genetic disorder
• Craniofacial abnormalities
• Developmental delay
• Congenital heart defect
• Autosomal recessive inheritance

Related Pages

• Genetic testing
• Physical therapy
• Special education
• Surgical intervention