Cataract-aberrant oral frenula-growth delay syndrome

Orpha code: 1373OMIM code: 115645

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

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