TRIANGLE disease

From WikiMD's Wellness Encyclopedia

Autosomal recessive - en

TRIANGLE disease is a rare genetic disorder characterized by a combination of developmental delay, intellectual disability, and distinctive facial features. The name TRIANGLE is an acronym derived from the key features of the disease: Three-dimensional facial dysmorphism, Retardation of growth, Intellectual disability, Abnormalities in the Nervous system, Genital anomalies, Limb abnormalities, and Epilepsy.

Clinical Features[edit | edit source]

Patients with TRIANGLE disease typically present with a range of clinical features, including:

Genetics[edit | edit source]

TRIANGLE disease is caused by mutations in a specific gene, though the exact gene responsible has not yet been identified. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis[edit | edit source]

The diagnosis of TRIANGLE disease is based on clinical evaluation, detailed patient history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may reveal structural abnormalities, and genetic testing can help identify the specific mutation responsible for the disorder.

Management[edit | edit source]

There is currently no cure for TRIANGLE disease, and treatment is primarily supportive and symptomatic. Management strategies may include:

Prognosis[edit | edit source]

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

See Also[edit | edit source]

Related Pages[edit | edit source]

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Contributors: Prab R. Tumpati, MD