Definition
Aarskog-Scott syndrome is a rare X-linked recessive genetic syndrome characterized by facial, skeletal and genital anomalies.
Symptoms
- Round face, hypertelorism
- Short stature
- Severe craniofacial and skeletal anomalies
- Genital anomalies (scrotal cap)
Reasons
Mutation in the FGD1 gene.
Diagnosis
Clinical findings, genetic testing.
Treatment
Orthopedic and craniofacial surgery, supportive care.
Which Polyclinic Should You Apply To?
Genetics Polyclinic or Pediatrics Polyclinic
What to Do in an Emergency?
In case of respiratory distress or severe feeding problems, emergency services should be consulted.
This page is for general information purposes only.