What is Developmental Bone Birth Defect (Achondrogenesis)

Achondrogenesis is a kind of birth defect in the development of bone and cartilage, and is thought to be inherited.

Statistics on Developmental Bone Birth Defect (Achondrogenesis)

Lethal achondrogenesis types I and II are both rare. Their respective incidences are not known; however, the overall frequency has been estimated at 1 in 40,000 births.

Mortality/Morbidity: Achondrogenesis type I results in stillbirth more frequently than type II. Of babies born alive, those with type I typically have a shorter gestation and survive for a shorter time than those with type II. They are also smaller with much shorter limbs, which is in agreement with the general view that type I is the more severe form of this defect.

Race: No predilection exists.

Sex: Males and females are affected equally by the disorder.

Age: Achondrogenesis is detected prenatally or at birth because the main feature of the disorder is failure of bone and cartilege to properly form.

Risk Factors for Developmental Bone Birth Defect (Achondrogenesis)

With this kind of birth defect there are no identified predisposing factors other than family history of the birth defect. The birth defect is genetically linked.

Progression of Developmental Bone Birth Defect (Achondrogenesis)

The outcome is generally very poor for infants born with this kin of birth defect. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.

How is Developmental Bone Birth Defect (Achondrogenesis) Diagnosed?

There is no treatment for this kind of birth defect. The only real option available to parents is genetic counselling to screen for the birth defect and make an informed choice in consultation with their doctor.

Prognosis of Developmental Bone Birth Defect (Achondrogenesis)

The outcome of this birth defect is generally very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.

How is Developmental Bone Birth Defect (Achondrogenesis) Treated?

There is no treatment for Achondrogenesis. The only real option available to parents is genetic counselling to screen for the birth defect and make an informed choice in consultation with their doctor.

Developmental Bone Birth Defect (Achondrogenesis) References

  1. Benacerraf B, Osathanondh R, Bieber FR: Achondrogenesis type I: ultrasound diagnosis in utero. J Clin Ultrasound 1984 Jul-Aug; 12(6): 357-9
  2. eMEDICINE
  3. Godfrey M, Keene DR, Blank E, et al: Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. Am J Hum Genet 1988 Dec; 43(6): 894-903
  4. MEDLINE Plus
  5. Yang SS, Brough AJ, Garewal GS, Bernstein J: Two types of heritable lethal achondrogenesis. J Pediatr 1974 Dec; 85(6): 796-801