Der Kaloustian-Jarudi-Khoury syndrome

Der Kaloustian-Jarudi-Khoury syndrome
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Synonyms
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Intellectual disability, distinctive facial features, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Der Kaloustian-Jarudi-Khoury syndrome is a rare genetic disorder characterized by a combination of intellectual disability, distinctive facial features, and skeletal abnormalities. It is named after the researchers who first described the condition.

Presentation

Individuals with Der Kaloustian-Jarudi-Khoury syndrome typically present with a range of symptoms that can vary in severity. Common features include:

• Intellectual disability: Affected individuals often have developmental delays and learning difficulties.
• Facial features: Distinctive facial characteristics may include a prominent forehead, wide-set eyes, and a flat nasal bridge.
• Skeletal abnormalities: These may include short stature, joint hypermobility, and other bone-related issues.

Genetics

Der Kaloustian-Jarudi-Khoury syndrome is believed to be caused by mutations in a specific gene, although the exact genetic basis is not fully understood. It is typically inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Der Kaloustian-Jarudi-Khoury syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the associated gene.

Management

There is no cure for Der Kaloustian-Jarudi-Khoury syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Educational support and special education programs
• Physical therapy to address skeletal and joint issues
• Regular monitoring and management of any associated health problems

Prognosis

The prognosis for individuals with Der Kaloustian-Jarudi-Khoury syndrome varies depending on the severity of symptoms and the presence of any associated health issues. With appropriate support and management, many individuals can lead fulfilling lives.

Also see

• Genetic disorder
• Intellectual disability
• Skeletal dysplasia
• Autosomal recessive inheritance