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Up to: Autosomal dominant disease · Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Cataract-aberrant oral frenula-growth delay syndrome
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.
This condition has no sub-types.