ectodermal dysplasia-blindness syndrome
Findings
No curated finding names ectodermal dysplasia-blindness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0010001), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Occasional (5% to 29% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
- Abnormality of visionHPOHP:0000504
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)