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Start free with EleplanPendred syndrome
ORPHA:705Malformation syndrome
Also called Goiter-deafness syndrome · Goiter-hearing loss syndrome
What it is
A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
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%
4Sometimes5–29%
9- Abnormality of speech or vocalization
- Ataxia
- Hyperparathyroidism
- Intellectual disability
- Nephropathy
- Respiratory insufficiency
- Thyroid carcinoma
- Tracheal stenosis
and 1 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
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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