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Osteogenesis imperfecta type 5

2 OMIM references -
2 associated genes
No signs/symptoms info

COMMON GENES: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Osteogenesis imperfecta type 5

Bruck syndrome

FKBP10	(UniProt - OMIM)		FKBP10	(UniProt - OMIM)
IFITM5	(UniProt - OMIM)		PLOD2	(UniProt - OMIM)


COMMON GENES	FKBP10

Citations in the biomedical literature:

Osteogenesis imperfecta type 5		Bruck syndrome
	Synonym(s): - OI type 5		Synonym(s): - Osteogenesis imperfecta - congenital joint contractures

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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 dominant		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 - 1 MeSH reference: C536046		External references: 2 OMIM references - No MeSH references

Bruck syndrome
	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
Osteogenesis imperfecta type 5
(no data available)