Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome

Joint Bone Spine. 2011 Jan;78(1):45-9. doi: 10.1016/j.jbspin.2010.03.012. Epub 2010 May 11.

Abstract

Stickler syndrome is a group of rare genetic conditions (incidence, 1/7500 births) related to mutations in the collagen genes. Both the mutations and the clinical features vary widely across affected patients. The main manifestations are craniofacial birth defects, bone and joint symptoms, ocular abnormalities, and hearing loss. Stickler syndrome may be revealed at birth (25% of cases) by a combination of cleft palate, retrognathism, and micrognathism known as Pierre Robin sequence, which may cause neonatal respiratory problems. The ocular abnormalities include severe myopia, abnormalities of the vitreous, and a high risk of retinal detachment (60% of cases), which may cause blindness (4% of cases). Severe hearing loss with onset in early childhood may impair performance at school. Osteoarthritis (75% of patients) with onset before 30 years of age is a severe manifestation that causes chronic hip and low back pain and functional impairments. Joint replacement surgery is often required. The risk associated with multiple anesthesias is highest in patients with craniofacial defects. The bone status may deserve to be evaluated, as the combination of genetic abnormalities and physical impairments may promote bone loss. Clinicians should be cognizant of Stickler syndrome so that they can detect the disease in patients and their family members, prevent functional impairments, organize a multidisciplinary management strategy, and arrange for genetic counseling.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Arthritis / diagnostic imaging
  • Arthritis / epidemiology
  • Arthritis / genetics
  • Connective Tissue Diseases / diagnostic imaging
  • Connective Tissue Diseases / epidemiology
  • Connective Tissue Diseases / genetics
  • Hearing Loss, Sensorineural / diagnostic imaging
  • Hearing Loss, Sensorineural / epidemiology
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Incidence
  • Osteoarthritis / diagnostic imaging
  • Osteoarthritis / epidemiology*
  • Osteoarthritis / genetics
  • Pierre Robin Syndrome / diagnostic imaging
  • Pierre Robin Syndrome / epidemiology*
  • Pierre Robin Syndrome / genetics
  • Radiography
  • Retinal Detachment / diagnostic imaging
  • Retinal Detachment / epidemiology
  • Retinal Detachment / genetics
  • Risk Factors

Supplementary concepts

  • Stickler syndrome, type 1