Achondrogenesis Treatment & Management

Updated: Jun 26, 2013
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD  more...
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Treatment

Medical Care

Medical care

Medical care is supportive in achondrogenesis. No treatment is available for the underlying disorder.

Genetic counseling

Achondrogenesis type IA and type IB are inherited as autosomal recessive disorders. For a couple who has an affected child, the recurrence risk is 1 in 4 (25%). This risk is markedly higher than the recurrence risk for achondrogenesis type II, which is usually caused by a new dominant mutation.

In type II, asymptomatic carriers may be present in the families of affected patients. It is important to consider the possibility of germline mosaicism in de novo dominant conditions such as achondrogenesis II. Couples having delivered a pregnancy considered to have a de novo dominant disorder should be counseled that the recurrence risk is greater than the background risk, although the exact recurrence risk is uncertain. If 2 or more siblings are affected, the recurrence risk increases further. [17]

Genetic counseling must rely on accurate differentiation between achondrogenesis type I and type II.

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Consultations

Consultations should be made with the following specialists:

  • Clinical geneticists
  • Radiologists
  • Anatomical pathologists
  • Perinatologists
  • Ultrasonographers
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