Lyngstadaas syndrome

Autosomal recessive - en

Lyngstadaas syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, skeletal abnormalities, and developmental delays. The syndrome is named after the Norwegian geneticist who first described it.

Presentation

Individuals with Lyngstadaas syndrome typically present with a range of symptoms that can vary in severity. Common features include:

• Craniofacial abnormalities: These may include a prominent forehead, wide-set eyes (hypertelorism), a flat nasal bridge, and a small jaw (micrognathia).
• Skeletal abnormalities: These can include short stature, scoliosis, and joint hypermobility.
• Developmental delays: Affected individuals may experience delays in reaching developmental milestones such as walking and talking. Intellectual disability can also be present.
• Cardiac anomalies: Some individuals may have congenital heart defects.

Genetics

Lyngstadaas syndrome is believed to be inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific gene or genes involved have not yet been identified.

Diagnosis

Diagnosis of Lyngstadaas syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations.

Management

There is no cure for Lyngstadaas syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including:

• Pediatricians
• Geneticists
• Orthopedic surgeons
• Speech therapists
• Cardiologists

Prognosis

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

Related Pages

• Genetic disorder
• Craniofacial abnormalities
• Developmental delay
• Congenital heart defect