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Bruck syndrome
2 OMIM references -
2 associated genes
23 connected diseases
15 signs/symptoms
Disease Type of connection
Arthrogryposis-like syndrome
Osteogenesis imperfecta type 5
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Aicardi-Goutières syndrome
Burkitt lymphoma
Chilblain lupus
Chuvash erythrocytosis
Craniolenticulosutural dysplasia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Precursor T-cell acute lymphoblastic leukemia
Primary ciliary dyskinesia
Von Hippel-Lindau disease
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Hirschsprung disease
Synonym(s):
- Osteogenesis imperfecta - congenital joint contractures
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FKBP10 Q96AY3607063
PLOD2 O00469601865
Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Wormian bones

Frequent
- Kyphosis
- Pterygion
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Talipes-varus / metatarsal varus
- Triangular face

Occasional
- Bowed diaphysis / diaphyses / long bones
- Platyspondyly