TRIANGLE disease

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

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

• Developmental delay: Delayed milestones in motor and cognitive development.
• Intellectual disability: Varying degrees of cognitive impairment.
• Facial dysmorphism: Distinctive facial features such as a triangular face, wide-set eyes, and a small chin.
• Growth retardation: Below-average growth and short stature.
• Nervous system abnormalities: Structural brain anomalies, seizures, and epilepsy.
• Genital anomalies: Abnormalities in the development of the genital organs.
• Limb abnormalities: Malformations of the hands and feet.

Genetics

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

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

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

• Physical therapy and occupational therapy to address developmental delays and improve motor skills.
• Special education programs tailored to the individual's cognitive abilities.
• Antiepileptic drugs to control seizures.
• Regular monitoring and management of growth and nutritional status.

Prognosis

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

• Developmental delay
• Intellectual disability
• Epilepsy
• Genetic disorders
• Autosomal recessive inheritance

Related Pages

• Developmental delay
• Intellectual disability
• Epilepsy
• Genetic disorders
• Autosomal recessive inheritance