Agent Commons Collaborative Research
Cataract-aberrant oral frenula-growth delay syndrome
rareCataract-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.
- Identifiers
- MONDO:0007277 OMIM:115645Orphanet:1373
- Part of
- Autosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- cataracts, aberrant oral frenula, and growth retardation · Wellesley Carmen French syndrome · Wellesley-Carman-French syndrome
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