BRUCK SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
BRKS2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 609220
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:0003080) Hydroxyprolinuria 7 / 7739
2
(HPO:0002645) Wormian bones 65 / 7739
3
(HPO:0006380) Knee flexion contracture 56 / 7739
4
(HPO:0001371) Flexion contracture 220 / 7739
5
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
6
(HPO:0000938) Osteopenia 138 / 7739
7
(HPO:0000926) Platyspondyly 150 / 7739
8
(HPO:0002980) Femoral bowing 36 / 7739
9
(HPO:0000768) Pectus carinatum 136 / 7739
10
(HPO:0004565) Severe platyspondyly 13 / 7739
11
(HPO:0002987) Elbow flexion contracture 64 / 7739
12
(HPO:0000926) Platyspondyly 150 / 7739
13
(HPO:0001762) Talipes equinovarus 309 / 7739
14
(HPO:0002803) Congenital contracture 45 / 7739
15
(HPO:0001059) Pterygium 16 / 7739
16
(HPO:0000023) Inguinal hernia 181 / 7739
17
(HPO:0004322) Short stature 1232 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ha-Vinh et al. (2004) described a child with Bruck syndrome who was the offspring of healthy nonconsanguineous Turkish parents. At birth, pterygia were present at the left elbow and at both knees, and extension of these joints was ...
Molecular genetics OMIM In 2 families with Bruck syndrome in which linkage to chromosome 17p12 was excluded, van der Slot et al. (2003) identified homozygous missense mutations in exon 17 of the PLOD2 gene (601865.0001-601865.0002). Parents of both families were heterozygous ...