Der Kaloustian–Jarudi–Khoury syndrome

Der Kaloustian–Jarudi–Khoury syndrome
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
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Der Kaloustian–Jarudi–Khoury syndrome is a rare genetic disorder characterized by a combination of intellectual disability, distinctive facial dysmorphism, and various skeletal abnormalities. The syndrome was first described by Der Kaloustian, Jarudi, and Khoury in a series of case studies.

Presentation

Individuals with Der Kaloustian–Jarudi–Khoury syndrome typically present with a range of clinical features that may include:

• Intellectual disability of varying degrees
• Distinctive facial features such as a broad forehead, hypertelorism (wide-set eyes), and a flat nasal bridge
• Skeletal abnormalities, which may include short stature, joint hypermobility, and scoliosis
• Other possible features include congenital heart defects, hearing loss, and vision problems

Genetics

The syndrome is believed to be caused by mutations in a specific gene, although the exact genetic basis has not been fully elucidated. It is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Diagnosis

Diagnosis of Der Kaloustian–Jarudi–Khoury syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the suspected 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 involve:

• Special education programs and therapies to address intellectual disability
• Surgical interventions for skeletal abnormalities or congenital heart defects
• Regular monitoring and management of hearing and vision problems

Prognosis

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

Epidemiology

Der Kaloustian–Jarudi–Khoury syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.

History

The syndrome was first described in the medical literature by Der Kaloustian, Jarudi, and Khoury, who identified a series of patients with similar clinical features. Their work laid the foundation for further research into the genetic and clinical aspects of the syndrome.

Also see

• Genetic disorder
• Intellectual disability
• Facial dysmorphism
• Skeletal dysplasia