osteochondrodysplasia

Introduction

Inherited developmental disorders causing dwarfism & abnormal body proportions.

Management

• no definitive therapy available
• symptomatic treatment directed at secondary features
  • degenerative arthritis
  • corrective surgery for cleft palate
  • monitor for development of cataracts
  • laser therapy to prevent retinal detachment
• patient education
  • avoid contact sports
  • counseling for psychological problems associated with short stature

More general terms

• osteochondropathy (disorder of bone & cartilage)
• developmental bone disorder

More specific terms

• achondrogenesis
• achondroplasia
• acromesomelic chondrodysplasia
• Cantu syndrome; hypertrichotic osteochondrodysplasia
• chondrodysplasia Blomstrand type (BOCD)
• chondrodysplasia punctata
• Desbuquois dysplasia
• fibrochondrogenesis
• Jansen-type metaphyseal chondrodysplasia
• metatropic dwarfism type 2 (Kniest dysplasia, Kniest syndrome)
• multiple epiphyseal dysplasia (EDM)
• pseudoachondroplasia
• pycnodysostosis
• Schmid type metaphyseal chondrodysplasia; includes: spondylometaphyseal dysplasia Japanese type
• spondyloepiphyseal dysplasia
• Stickler syndrome or hereditary progressive arthroophthalmopathy
• X-linked recessive chondrodysplasia punctata 1

Additional terms

• dyschondroplasia
• Ellis-van Creveld syndrome (chondroectodermal dysplasia)
• fucosidosis
• mucosulfatidosis; multiple sulfatase deficiency; Austin variant of metachromatic leukodystrophy
• Schwartz-Jampel syndrome (SJS1)