Hip dysplasia, Beukes type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP BHD BFHD Premature degenerative osteoarthropathy of the hip Cilliers-Beighton syndrome beukes familial hip dysplasia |
| Number of Symptoms | 20 |
| OrphanetNr: | 2114 |
| OMIM Id: |
142669
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| ICD-10: |
Q65.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple epiphyseal dysplasia and pseudoachondroplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000924) | Abnormality of the skeletal system | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0011849) | Abnormal bone ossification | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0003182) | Shallow acetabular fossae | 10 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0006429) | Broad femoral neck | 18 / 7739 | ||||
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(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0008783) | Wide proximal femoral metaphysis | 1 / 7739 | ||||
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(HPO:0005743) | Avascular necrosis of the capital femoral epiphysis | 17 / 7739 | ||||
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(HPO:0003370) | Flat capital femoral epiphysis | 15 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0002758) | Osteoarthritis | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0005041) | Irregular capital femoral epiphysis | 5 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
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(OMIM) | Delayed appearance secondary ossification center femoral head (early childhood) | 1 / 7739 | ||||
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(OMIM) | Pronounced coxa plana (adulthood) | 1 / 7739 | ||||
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(OMIM) | Irregular greater trochanteric epiphyses (mid-childhood) | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Irregular proximal epiphyseal line of femur (early childhood) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Cilliers and Beighton (1990) identified a 'new' inherited skeletal disorder in 47 patients in 6 generations of an Afrikaner family in South Africa. Hip-joint discomfort usually developed during childhood at age less than 2 years, but might develop ... |