BRUCK SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: BRKS1
Number of Symptoms 19
OrphanetNr:
OMIM Id: 259450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002650) Scoliosis 705 / 7739
2
(HPO:0000768) Pectus carinatum 136 / 7739
3
(HPO:0001382) Joint hypermobility 231 / 7739
4
(HPO:0002803) Congenital contracture 45 / 7739
5
(HPO:0001059) Pterygium 16 / 7739
6
(HPO:0008422) Vertebral wedging 7 / 7739
7
(HPO:0003179) Protrusio acetabuli 37 / 7739
8
(HPO:0001762) Talipes equinovarus 309 / 7739
9
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
10
(HPO:0002812) Coxa vara 58 / 7739
11
(HPO:0000926) Platyspondyly 150 / 7739
12
(HPO:0000939) Osteoporosis 129 / 7739
13
(HPO:0001388) Joint laxity 117 / 7739
14
(HPO:0002808) Kyphosis 289 / 7739
15
(HPO:0005692) Joint hyperflexibility 20 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(OMIM) Normal teeth 15 / 7739
18
(OMIM) Normal sclerae 4 / 7739
19
(OMIM) Normal hearing 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).

- Genetic Heterogeneity of Bruck Syndrome ...

Clinical Description OMIM Viljoen et al. (1989) described 5 children from 3 unrelated families who were born with symmetrical contractures of the knees, ankles, and feet. An initial diagnosis of arthrogryposis multiplex was made because of fractures following trivial trauma and ...
Molecular genetics OMIM In 2 brothers with Bruck syndrome, Shaheen et al. (2010) identified a homozygous 8-bp insertion in the FKBP10 gene (607063.0003). They suggested that their patients and the patients reported by Alanay et al. (2010) with osteogenesis imperfecta may ...