ectodermal dysplasia-sensorineural deafness syndrome
Findings
No curated finding names ectodermal dysplasia-sensorineural deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009146), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Ectodermal dysplasiaHPOHP:0000968
- Very frequent (80% to 99% of cases)
- Joint contracture of the 5th fingerHPOHP:0009183
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
Show the remaining 2
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: ectodermal dysplasia-sensorineural deafness syndrome
- Also called
- ectodermal dysplasia-sensorineural hearing loss syndrome