Cataract-aberrant oral frenula-growth delay syndrome
Synonyms: Wellesley-Carman-French 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Cataract-aberrant oral frenula-growth delay syndrome?
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