Al-Raqad syndrome
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[edit | edit source]
The symptoms of Al-Raqad Syndrome include:
- Muscle weakness
- Developmental delay
- Intellectual disability
- Distinctive facial features
Causes[edit | edit source]
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[edit | edit source]
The diagnosis of Al-Raqad Syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing.
Treatment[edit | edit source]
There is currently no cure for Al-Raqad Syndrome. Treatment is supportive and based on the symptoms present in each individual.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
