Mental retardation, X linked, Marfanoid habitus

A genetic disorder characterized by intellectual disability and marfanoid features

Mental retardation, X-linked, Marfanoid habitus
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Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Intellectual disability, marfanoid features
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation on the X chromosome
Risks	Family history
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Mental retardation, X-linked, Marfanoid habitus is a rare genetic disorder characterized by intellectual disability and physical features resembling Marfan syndrome. This condition is inherited in an X-linked recessive pattern, meaning it predominantly affects males, while females may be carriers.

Genetics

The disorder is caused by mutations in a gene located on the X chromosome. The specific gene involved is often related to the development of connective tissue and neural function, which explains the combination of marfanoid features and intellectual disability. As an X-linked condition, males with the mutation will express the disorder, while females with one mutated copy of the gene are typically asymptomatic carriers.

Clinical Features

Individuals with this condition exhibit a range of symptoms, including:

• Intellectual Disability: Varying degrees of cognitive impairment are present, often identified in early childhood.
• Marfanoid Habitus: Physical features may include tall stature, long limbs, arachnodactyly (long, slender fingers), and hypermobility of joints. These features resemble those seen in Marfan syndrome, although the underlying genetic cause is different.
• Facial Dysmorphism: Some individuals may have distinct facial features, although these can vary widely.

Diagnosis

Diagnosis is typically made through a combination of clinical evaluation and genetic testing. Genetic testing can identify mutations in the specific gene associated with the disorder, confirming the diagnosis.

Management

There is no cure for this condition, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Educational Support: Special education programs tailored to the individual's cognitive abilities.
• Physical Therapy: To address joint hypermobility and improve motor skills.
• Regular Monitoring: To manage any associated health issues, such as cardiovascular problems that may arise due to marfanoid features.

Prognosis

The prognosis for individuals with this condition varies depending on the severity of symptoms. With appropriate support and management, many individuals can lead fulfilling lives.

Also see

• Marfan syndrome
• Intellectual disability
• X-linked recessive inheritance
• Genetic disorders