Camptodactyly syndrome, Guadalajara type 3

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Camptodactyly syndrome, Guadalajara type 3

Camptodactyly syndrome Guadalajara type 3 is a rare genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face hypertelorism telecanthus symblepharon simplified ears retrognathia) and neck anomalies (short neck with stricking pterygia muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta) congenital shortness of the sternocleidomastoid muscle flexed wrists and thin hands and feet. Brain structural anomalies multiple nevi micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae cortical thickening of long bones and delayed bone age.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Camptodactyly syndrome, Guadalajara type 3?

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