Mental retardation contractural arachnodactyly

Mental Retardation Contractural Arachnodactyly (MRCA) is a rare genetic disorder characterized by intellectual disability, contractures (permanent shortening of a muscle or joint), and arachnodactyly (abnormally long and slender fingers and toes). This condition falls under the broader category of connective tissue disorders, sharing some clinical features with other conditions such as Marfan Syndrome, yet it is distinct in its genetic cause and clinical manifestations.

Etiology

The genetic basis of MRCA involves mutations in specific genes, although the exact genes and mechanisms may vary among affected individuals. These genetic alterations disrupt the normal development and function of connective tissue in the body, leading to the characteristic features of the disorder.

Clinical Features

Individuals with MRCA typically present with:

• Intellectual Disability: Varying degrees of cognitive impairment are observed in affected individuals.
• Contractures: These are often present at birth (congenital) and may affect any joint, but are most commonly seen in the fingers, toes, elbows, and knees.
• Arachnodactyly: The fingers and toes are disproportionately long and slender, a hallmark feature of the condition.

Other possible features include skeletal abnormalities, such as scoliosis (curvature of the spine), and ocular problems. The severity and combination of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of MRCA is based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying a causative mutation, although such testing may not be available in all cases due to the rarity of the condition.

Management

There is no cure for MRCA, and management focuses on treating the symptoms and improving quality of life. This may include:

• Physical therapy and orthopedic interventions for contractures
• Educational support and resources for intellectual disability
• Regular monitoring and treatment for any associated complications, such as vision problems or scoliosis

Prognosis

The prognosis for individuals with MRCA varies depending on the severity of symptoms and the presence of associated complications. With appropriate management, many affected individuals can lead active and fulfilling lives.

See Also

• Connective Tissue Disorders
• Marfan Syndrome
• Genetic Disorders
• Intellectual Disability

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