Orphanet: Bruck syndrome
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Bruck syndrome

Disease definition

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

ORPHA:2771

Classification level: Disorder
  • Synonym(s):
    • Osteogenesis imperfecta-congenital joint contractures syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: M21.8
  • ICD-11: LD24.KY
  • OMIM: 259450  609220
  • UMLS: C0432253
  • MeSH: -
  • GARD: 1029
  • MedDRA: 10063718

Summary

Epidemiology

Prevalence is unknown but less than 40 cases have been reported in the literature so far.

Clinical description

Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal.

Etiology

The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals.

Genetic counseling

Transmission is autosomal recessive.

- Last update: July 2008

  A summary on this disease is available in Italiano (2007) Deutsch (2008) Español (2008) Français (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.