Kuskokwim syndrome

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Kuskokwim syndrome

Synonyms: Arthrogryposis-like syndrome | Kuskokwim disease

A very rare congenital contracture disorder reported exclusively in Yup’ik Eskimos of the Kuskokwim River delta region of Alaska characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging elongation of the vertebral pedicle and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.

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 March 2024

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Kuskokwim syndrome?

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Advocacy Organizations

ZC4H2 Research Foundation

The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.

Clinical Trials

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