cataract-aberrant oral frenula-growth delay syndrome
Findings
No curated finding names cataract-aberrant oral frenula-growth delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
Definition from the Mondo Disease Ontology (MONDO:0007277), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Accessory oral frenulumHPOHP:0000191
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cavernous hemangiomaHPOHP:0001048
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- High hypermetropiaHPOHP:0008499
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPO
Where it sits
Other names
1 name
Resolves to: cataract-aberrant oral frenula-growth delay syndrome
- Also called
- Wellesley-Carman-French syndrome