cataract-aberrant oral frenula-growth delay 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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Wellesley Carmen French syndrome
related
Wellesley-Carman-French syndrome
exact
cataracts, aberrant oral frenula, and growth retardation
related