Bruck syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Osteogenesis imperfecta - congenital joint contractures |
| Number of Symptoms | 25 |
| OrphanetNr: | 2771 |
| OMIM Id: |
259450
609220 |
| ICD-10: |
M21.8 |
| UMLs: |
C0432253 |
| MeSH: |
|
| MedDRA: |
10063718 |
| Snomed: |
254113006 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 40 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with decreased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare disease with dentinogenesis imperfecta -Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0002645) | Wormian bones | Very frequent [Orphanet] | 65 / 7739 | |||
|
|
(HPO:0000325) | Triangular face | Frequent [Orphanet] | 91 / 7739 | |||
|
|
(HPO:0001059) | Pterygium | Frequent [Orphanet] | 16 / 7739 | |||
|
|
(HPO:0006487) | Bowing of the long bones | Occasional [Orphanet] | 95 / 7739 | |||
|
|
(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
|
|
(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
|
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
|
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0006380) | Knee flexion contracture | 56 / 7739 | ||||
|
|
(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
|
|
(HPO:0003273) | Hip contracture | 30 / 7739 | ||||
|
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
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(HPO:0006466) | Ankle contracture | 17 / 7739 | ||||
|
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
|
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(HPO:0003179) | Protrusio acetabuli | 37 / 7739 | ||||
|
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
|
|
(HPO:0000926) | Platyspondyly | Occasional [Orphanet] | 150 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0000768) | Pectus carinatum | 136 / 7739 | ||||
|
|
(HPO:0008422) | Vertebral wedging | 7 / 7739 | ||||
|
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(HPO:0002803) | Congenital contracture | Very frequent [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|