hip dysplasia, Beukes type
Beukes familial hip dysplasia (BFHD) is 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 develops in childhood and that progresses 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. [ ]
Term info
hip dysplasia, Beukes type
- BFHD
- Beukes familial hip dysplasia
- Cilliers-Beighton syndrome
- hip dysplasia, Beukes type
- premature degenerative osteoarthropathy of the hip
ordo_disease
http://identifiers.org/mesh/C564185, http://purl.obolibrary.org/obo/Orphanet_2114, http://purl.obolibrary.org/obo/DOID_0111367, http://identifiers.org/snomedct/721148005, https://omim.org/entry/142669
osteoarthropathy, premature degenerative, of hip, Beukes hip dysplasia, hip dysplasia Beukes type, BHD
MONDO:0007726
https://icd.codes/icd10cm/Q65.8
https://github.com/monarch-initiative/mondo/issues/4948