Cataract-aberrant oral frenula-growth delay syndrome

Orpha code: 1373OMIM code: 115645

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Wellesley-Carman-French syndrome
Zespół Wellesley'a, Carmana i Frencha
Kod ORPHA
1373
Kod OMIM
115645
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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