GMS syndrome

GMS syndrome is a rare genetic disorder characterized by a combination of growth retardation, mental retardation, and skeletal abnormalities. The syndrome is named after the initials of the first three patients diagnosed with the condition.

Clinical Features

Individuals with GMS syndrome typically present with the following clinical features:

• Growth retardation: Affected individuals often exhibit significantly reduced growth rates, leading to short stature.
• Mental retardation: Cognitive impairment is a common feature, with varying degrees of intellectual disability.
• Skeletal abnormalities: These may include scoliosis, kyphosis, and other bone deformities.

Genetics

GMS syndrome is believed to be inherited in an autosomal recessive manner. 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 GMS syndrome have not yet been identified.

Diagnosis

The diagnosis of GMS 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 currently no cure for GMS syndrome. Management focuses on addressing the symptoms and may include:

• Physical therapy to improve mobility and manage skeletal abnormalities.
• Special education programs to support cognitive development.
• Regular monitoring of growth and development.

Prognosis

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

See Also

• Growth retardation
• Mental retardation
• Skeletal abnormalities
• Autosomal recessive
• Genetic disorder

Related Pages

• Scoliosis
• Kyphosis
• Physical therapy
• Special education