Mukamel syndrome

Mukamel syndrome
Synonyms
Pronounce	N/A
Specialty	Genetics, Pediatrics
Symptoms	Developmental delay, Intellectual disability, Microcephaly, Seizures, Hypotonia
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, Clinical evaluation
Differential diagnosis	Rett syndrome, Angelman syndrome, Smith-Magenis syndrome
Prevention	N/A
Treatment	Supportive care, Physical therapy, Occupational therapy, Speech therapy
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Mukamel syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, and distinctive physical features. The syndrome was first described by Dr. Shlomo Mukamel in 1989.

Symptoms and Signs

The most common symptoms of Mukamel syndrome include:

• Developmental delay
• Intellectual disability
• Distinctive physical features such as a small head (microcephaly), a long face, and a prominent forehead
• Other features may include epilepsy, autism, and hypotonia (low muscle tone)

Causes

Mukamel syndrome is caused by mutations in the DNA that affect the normal development and function of the brain and other parts of the body. The exact gene or genes involved are not yet known.

Diagnosis

Diagnosis of Mukamel syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis.

Treatment

There is no cure for Mukamel syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, occupational therapy, and special education services.

Prognosis

The prognosis for individuals with Mukamel syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See also

• List of genetic disorders
• List of rare diseases

References

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