Camptodactyly syndrome Guadalajara type 1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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

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

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.

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

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2010

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