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Dr. Andrew Rynne

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Article Home Bone, Muscle and Joint Disorders Osteochondroplasia

Osteochondroplasia

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Osteochondroplasia?s or osteodyschondroplasia are a group of diseases heterogeneous in nature. In these disorders there is abnormality in the skeletal and cartilages across the body. The abnormality may be in any part of the body and accordingly they are classified into various types. These disorders form a group of more than 200 conditions.

 Generally these conditions are diagnosed inutero. The etiology behind these groups of diseases is attributed to the genetic factors. It has both autosomal dominant and autosomal recessive variants. The disease affects the integrity of the collagen. There may be impairment of certain nerves that emerge from central nervous system along with the altered ossification of the long bones of the body which will lead to the pain in the weight bearing joints.  Compression of certain nerves emerging from the central nervous system may result in loss of some motor function like loss of sensations over face or hearing loss.

Symptoms and Signs

  • Cranial nerve palsy
  • Syndactyly
  • Scoliosis
  • Kyphosis
  • Lordosis
  • Rhizomelia
  • Mezomelia
  • Hypertelorism
  • Sclerosis of skull bones
  • Wide metaphysic of bones
  • Thick calvarium
  • Mandible is prominent
  • Proptosis
  • Macrocephaly
  • Facial weakness along the region of nerve affected
  • Hyperplastic supra-orbital ridges
  • Large mandible
  • Bossing of frontal bones
  • Broad large Head

Types of osteochondrodysplasia

  • Thanatophoric dysplasia
  • Achondroplasia
  • Osteogenesis Imperfecta
  • Achondrogenesis
  • Asphyxiating thoracic dysplasia
  • Chondrodysplasia punctata
  • Diastrophic dysplasia
  • Short rib polydactyly syndrome
  • Chondroectodermal dysplasia
  • Hypochondroplasia
  • Campomelic dysplasia
  • Kniest dysplasia
  • Dyssegmental dysplasia
  • Atelosteogenesis
  • Hypophosphatasia

Diagnosis and investigations

Due to the nature of the disabling nature of the disease it compromises the quality of life of an individual. Therefore it is important to diagnose the disease in utero else the child will be suffering from the numerous complications of the condition. Primary objective in the evaluation of the fetus using Ultrasound is to differentiate between lethal and non lethal dysplasia. Cesarean section should be performed as there are more complications of Central Nervous System following the delivery from vaginal route. Genetic counseling should be advised to the patients after confirmation of the dysplasia.

Treatment and Drugs

Treatment of osteochondrodysplasia will differ from case to case basis depending upon the dysplasia affecting an individual and the complications involved.

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