Reduction or absence of sweating

  • Specific challenges associated with the recognition of the condition

Genetic and molecular Heterogeneity. At least 4 involved genes

  • Specific challenges associated with the diagnosis

Detection of the hereozygous carriers and the female cariers (X-linked form)

  • Specific challenges associated with the treatment

Hypodontia and Oligodontia needs experts in orodental treatment

  • Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care

Few follow-up at adulthood

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