Fragile X Syndrome
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Fragile X syndrome (FXS) is a rare genetic condition characterized by distinct physical features (usually in males), intellectual disability, and behavioral, motor, and language challenges/delays.
The life expectancy for people who have FXS is not affected.
Cause
FXS is caused by a mutation in a gene located on the X chromosome called FMR1. This mutation leads to an absence of a protein called FMRP, leading to FXS. Males are usually affected by FXS more often and with greater severity than females, possibly due to the fact that females have 2 X chromosomes and males only have 1.
Symptoms
Symptoms of FXS include developmental delays such as not sitting, walking, or talking at a certain age, trouble learning new skills, and social and behavior problems such as not making eye contact, trouble paying attention, and hand flapping. Distinct physical features such as large ears, a long face, double-jointed fingers, and flat feet can also be present.
Treatment
There is no cure for FXS, but the symptoms of it, such as sleep issues, ADHD, aggression, etc., can be treated with medication.
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