hip dysplasia, Beukes type
Findings
No curated finding names hip dysplasia, Beukes type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007726), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bone ossificationHPOHP:0011849
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal ossification involving the femoral head and neckHPOHP:0009107
- Very frequent (80% to 99% of cases)
- Abnormality of bone mineral densityHPOHP:0004348
- Very frequent (80% to 99% of cases)
- Abnormality of the epiphysis of the femoral headHPOHP:0010574
- Very frequent (80% to 99% of cases)
- Broad femoral neckHPOHP:0006429
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UFSP2HGNC:25640
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: hip dysplasia, Beukes type
- Also called
- Beukes familial hip dysplasiaBFHDCilliers-Beighton syndromepremature degenerative osteoarthropathy of the hip