ODCs

Cytoscape Web

Click node...

2 OMIM references -
2 associated genes
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Arthrogryposis-like syndrome

1 OMIM reference -
1 associated gene
11 signs/symptoms

Bruck syndrome

Arthrogryposis-like syndrome

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


COMMON GENES	FKBP10

Citations in the biomedical literature:

Bruck syndrome		Arthrogryposis-like syndrome
	Synonym(s): - Osteogenesis imperfecta - congenital joint contractures		Synonym(s): - Kuskokwim disease

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

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Talipes-varus / metatarsal varus

Bruck syndrome		Arthrogryposis-like syndrome
	Very frequent - Arthrogryposis - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism - Wormian bones Frequent - Kyphosis - Pterygion - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Triangular face Occasional - Bowed diaphysis / diaphyses / long bones - Platyspondyly		Very frequent - Abnormal gait - Patella absent / abnormal (excluding luxation) Occasional - Abnormal vertebral size / shape - Areflexia / hyporeflexia - Clavicle absent / abnormal - Pigmented naevi / naevus pigmentosus / lentigo - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray