Hip dysplasia, Beukes type
Synonyms: BFHD | Beukes familial hip dysplasia | Cilliers-Beighton syndrome | Premature degenerative osteoarthropathy of the hip
A primary bone dysplasia characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal height is not significantly reduced and general health is unimpaired. Radiographically the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints as evidenced by the presence of periarticular cysts sclerosis and joint space narrowing.
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 April 2024
Newly diagnosed with
Hip dysplasia, Beukes type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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