Definition
De Barsy syndrome is a rare autosomal recessive genetic disease characterized by cutaneous laxity, corneal opacities, progeroid appearance and neurological abnormalities.
Symptoms
- Cutaneous laxity (loose skin)
- Corneal opacities
- Progeroid appearance (aged appearance)
- Developmental delay
Reasons
Mutation in the ALDH18A1 or PYCR1 genes.
Diagnosis
Clinical findings, genetic testing.
Treatment
Symptomatic and supportive treatment.
Which Polyclinic Should You Apply To?
Genetics Polyclinic or Dermatology Polyclinic
What to Do in an Emergency?
In case of severe feeding difficulties or breathing problems, the emergency room should be consulted.
This page is for general information purposes only.