Al-Raqad syndrome

Al-Raqad syndrome
Synonyms
Pronounce	N/A
Specialty	Neurology, Genetics
Symptoms	Developmental delay, Intellectual disability, Seizures, Hypotonia
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, Clinical evaluation
Differential diagnosis	Other genetic syndromes
Prevention	N/A
Treatment	Supportive care, Symptomatic treatment
Medication	Anticonvulsants
Prognosis	N/A
Frequency	Rare disease
Deaths

Al-Raqad Syndrome is a rare genetic disorder characterized by muscle weakness, developmental delay, intellectual disability, and distinctive facial features. It was first described by Al-Raqad et al. in 2016.

Symptoms and Signs

The symptoms of Al-Raqad Syndrome include:

• Muscle weakness
• Developmental delay
• Intellectual disability
• Distinctive facial features

Causes

Al-Raqad Syndrome is caused by mutations in the ST3GAL3 gene. This gene provides instructions for making an enzyme that is involved in the formation of certain types of glycoproteins, which are proteins with attached sugar molecules.

Diagnosis

The diagnosis of Al-Raqad Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing.

Treatment

There is currently no cure for Al-Raqad Syndrome. Treatment is supportive and based on the symptoms present in each individual.

See Also

• Genetic disorder
• ST3GAL3
• Glycoproteins

References

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