Cataract-aberrant oral frenula-growth delay syndrome

MONDO:0007277

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.

Also known as: Wellesley-Carman-French syndrome, Wellesley Carmen French syndrome, cataract, aberrant oral frenula, and growth retardation, cataracts, aberrant oral frenula, and growth retardation

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