Myhre Syndrome synonyms

Myhre Syndrome, also known as LAPS Syndrome (Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature Syndrome), is a rare genetic disorder that affects various systems in the body. It is characterized by a combination of distinctive facial features, skeletal abnormalities, and developmental delays.

Individuals with Myhre Syndrome often exhibit prognathism (an abnormal protrusion of the lower jaw), which can affect speech and dental alignment. They may also have short stature due to delayed growth and skeletal abnormalities such as joint contractures and arthropathy (joint problems). Additionally, individuals with Myhre Syndrome may experience laryngotracheal stenosis, a narrowing of the airway that can lead to breathing difficulties.

The syndrome may also involve cardiovascular abnormalities such as valvular defects and constrictive pericarditis. Some individuals may have hearing loss or visual impairments due to structural abnormalities in the ears and eyes. Developmental delays and intellectual disabilities are common in individuals with Myhre Syndrome, although the severity can vary.

Myhre Syndrome is caused by mutations in the SMAD4 gene, which plays a role in regulating cell growth and development. It is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the disorder.

Due to the rarity of Myhre Syndrome, diagnosis can be challenging. Genetic testing and a thorough evaluation of the individual's medical history and physical characteristics are typically required. Treatment focuses on managing the symptoms and may involve a multidisciplinary approach, including surgical interventions for airway or joint problems, physical therapy, and educational support for developmental delays.