7th June 2025

Diagnosis

Prenatal testing is available in some centers.
History
- Family history
- Onset of symptoms (usually at birth- recurrent unexplained fevers)
Clinical
- Depends on the organs being affected
- Sweat glands
  - Absence/reduced sweat gland production results in disrupted thermoregulation which can lead to abnormally high temperatures in children.
  - Seizures and neurological problems occur as a sequalae.
- Hair
  - Thinning and sparsity of the hair present in the scalp and body.
  - The facial, axillary and pubic hairs are usually spared.
- Nails
  - Fingernail and toenail abnormalities including thinning, ridging, discoloration, brittle nails, or absence of nails.
- Teeth
  - Disfigurement in tooth shape, including pointed/peg shaped teeth. Teeth may also be missing
- Other symptoms:
  - Skin: dryness, pigmentation, thickening leading to cracking, bleeding, and infections
  - Eyes: Keratoconjunctivitis sicca due to lack of tear production. Cataracts and visual defects can occur.
  - Mucous membranes: foul smelling nasal discharge and respiratory infections due to decreased synthesis of normal protective secretions.
  - Cleft lip/palate
Histopathology
- Skin biopsy shows reduced numbers of sweat glands

Complete Guide to Clinical Genetics ST3 Application and Recruitment (2027)

Written by Medibuddy. Last updated: October 2026. Clinical Genetics is

Recruitment paused: NHS England is not running Clinical Radiology ST3+ recru

Written by Medibuddy. Last updated: October 2026. If you’re planning

Our mobile app allows you to access your interview and exam question banks wherever you are.