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Start free with EleplanPrimary congenital hypothyroidism
ORPHA:226295Clinical group
What it is
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Classified as
- Clinical group
Recorded for the broader condition
- Age of onset
- Infancy, NeonatalPermanent congenital hypothyroidism
- Inheritance
- Autosomal recessive, Not applicablePermanent congenital hypothyroidism
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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