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Start free with EleplanFamilial thyroid dyshormonogenesis
ORPHA:95716Disease
Also called Thyroid dyshormonogenesis
What it is
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
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.
Signs and symptoms
Very common80–99%
2Common30–79%
12- Abnormality of epiphysis morphology
- Congenital hypothyroidism
- Constipation
- Delayed cranial suture closure
- Delayed proximal femoral epiphyseal ossification
- Feeding difficulties in infancy
- Goiter
- Large posterior fontanelle
- Neurodevelopmental delay
- Prolonged neonatal jaundice
- Thyroid defect in oxidation and organification of iodide
- Umbilical hernia
Sometimes5–29%
14- Abnormal circulating thyroglobulin concentration
- Bradycardia
- Depressed nasal bridge
- Facial edema
- Hyporeflexia
- Hypothermia
- Hypotonia
- Increased radioactive iodine uptake
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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