Hip dysplasia, Beukes type
Synonyms: BFHD · Beukes familial hip dysplasia · Cilliers-Beighton syndrome · Premature degenerative osteoarthropathy of the hip
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hip dysplasia, Beukes type | BFHD · Beukes familial hip dysplasia · Cilliers-Beighton syndrome · Premature degenerative osteoarthropathy of the hip |
| fr | Dysplasie de la hanche type Beukes | BFHD · Dysplasie familiale de la hanche type Beukes · Ostéoarthropathie dégénérative précoce de la hanche · Syndrome de Cilliers-Beighton |
| de | Hüftdysplasie Typ Beukes | Cilliers-Beighton-Syndrom |
| es | Displasia de cadera tipo Beukes | Síndrome de Cilliers-Beighton |
| it | Displasia delle anche, tipo Beukes | Sindrome di Cilliers-Beighton |
| nl | Heupdysplasie, Beukes-type | BFHD · Familiale heupdysplasie, Beukes-type · Syndroom van Cilliers-Beighton · Vroegtijdige degeneratieve osteoartropathie van heup |
| pt | Displasia da anca, tipo Beukes | Síndrome Cilliers-Beighton |
| pl | Dysplazja stawu biodrowego typu Beukesa | BFHD · Przedwczesna osteoartropatia zwyrodnieniowa stawu biodrowego · Rodzinna dysplazja stawów biodrowych Beukesa · Zespół Cilliersa i Beightona |
| cs | Dysplázie kyčelního kloubu, typ Beukesových | BFHD · Rodinná dysplázie kyčlí (Beukes) · Cilliersův-Beightonův syndrom · Předčasná degenerativní osteoartropatie kyčlí · Cilliers-Beightonův syndrom |
| uk | Дисплазія кульшових суглобів, тип Бейкеса | Сімейна дисплазія кульшових суглобів Beukes · BFHD · Синдром Сільєра-Бейтона · Передчасна дегенеративна остеоартропатія кульшового суглоба |
| zh | 髋关节发育不良，Beukes型 | 髋关节发育不良，Beukes型 |
| tr | Kalça displazisi, Beukes tipi | BFHD · Cilliers-Beighton sendromu · Beukes ailesel kalça displazisi · Kalçanın erken dejeneratif osteoartropatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142669 | E | validated | |
| ICD-10 | Q65.8 | NTBT | attributed | validated |
| ICD-11 | LD24.6Y | NTBT | index | validated |
| MONDO | 0007726 | E | validated | |
| MeSH | C564185 | E | validated | |
| UMLS | C1840572 | E | validated | |
| GARD | 2690 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UFSP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25640 | ENSG00000109775 | 611482 | 4q35.1 | UFM1 specific peptidase 2 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0010574 | Abnormality of the epiphysis of the femoral head | |
| HP:0006429 | Broad femoral neck | |
| HP:0001385 | Hip dysplasia | |
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0002812 | Coxa vara | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2114
- This record as JSON: /data/d/2114.json