AARSD1
Angelman Syndrome: A Comprehensive Guide
Description
Angelman syndrome (AS) is a rare genetic disorder caused by a deletion or mutation on chromosome 15. It is characterized by intellectual and developmental disabilities, as well as distinct physical features and behavioral traits.
Physical Features:
- Microcephaly (small head size)
- Broad forehead with sparse hair
- Wide-set eyes
- Protruding tongue
- Small, downturned mouth
- Scoliosis (curvature of the spine)
Behavioral Traits:
- Happy and excitable demeanor
- Excessive laughter and smiling
- Hyperactivity and attention deficit
- Difficulty with speech and communication
- Trouble sleeping
Associated Diseases
AS can be associated with a number of other medical conditions, including:
- Epilepsy
- Feeding difficulties
- Gastrointestinal problems
- Congenital heart defects
- Scoliosis
- Vision and hearing impairments
Did you Know ?
Angelman syndrome affects approximately 1 in 15,000 to 20,000 individuals worldwide. It occurs more frequently in females than males.
