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://www.orphadata.org. Data version August 2026
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Camptodactyly syndrome, Guadalajara type 3?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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