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Cataract-aberrant oral frenula-growth delay syndrome

Disease 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.

ORPHA:1373

  • Synonym(s):
    • Wellesley-Carman-French syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 115645
  • UMLS: C1861835
  • MeSH: -
  • GARD: 5554
  • MedDRA: -

Additional information

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