Camptodactyly Syndrome, Guadalajara Type 1

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.

Epidemiology

To date only eight cases have been reported in the literature.

Clinical description

Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed.

Genetic counseling

The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.