Facial Dysmorphism, Cleft Palate, Hearing Loss, And Camptodactyly

Courtens et al. (1997) described a boy with median cleft palate, bilateral mixed hearing loss, clino- and camptodactyly, single palmar creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, coxa valga, and facial dysmorphism, which includes epicanthus, flat nasal bridge, microstomia, low-set ears, and micrognathia. His short-statured mother had median cleft palate, single palmar creases, and bilateral early-onset hearing loss. The authors suggested that this association is a distinct syndrome with autosomal or X-linked dominant inheritance. The syndrome shares many manifestations with Gordon syndrome (114300), but hearing loss was not mentioned in the reported cases of Gordon syndrome.