Definition
Trichothiodystrophy is a rare genetic disease characterized by brittle hair, physical and mental developmental delay, photosensitivity and neurological disorders.
Symptoms
- Brittle, low-sulfur hair
- Developmental delay
- Photosensitivity
- Neurological disorders
Reasons
Mutation in DNA repair genes.
Diagnosis
Hair microscopy, genetic testing.
Treatment
Symptomatic treatment, sun protection.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of severe seizures, emergency services should be consulted.
This page is for general information purposes only.