Achondrogenesis is a rare type of growth hormone deficiencygrowth hormone deficiency in which there is a defect in the development of bone and cartilage.
Causes of Achondrogenesis
Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.
Symptoms of Achondrogenesis
The list of signs and symptoms mentioned in various sources for Achondrogenesis includes the 19 symptoms listed below:
* Short limbs
* Narrow chest
* Prominent abdomen
* Rounded abdomen
* Short fingers
* Short toes
* Inward rotated toes
* Umbilical hernia
* Inguinal hernia
* Small chest
* Short ribs
* Underdeveloped lungs
* Lack of spinal bone formation
* Lack of pelvic bone formation
* Prominent forehead
* Small chin
* Cleft palate
* Large abdomen
* Hydrops fetalis
Achondrogenesis Treatment
Medical Care
* Medical care: Medical care is supportive in achondrogenesis. No treatment is available for the underlying disorder.
* Genetic counseling
o 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.
o Genetic counseling must rely on accurate differentiation between achondrogenesis type I and type II.
Consultations
Consultations should be made with the following specialists:
* Clinical geneticists
* Radiologists
* Anatomical pathologists
* Perinatologists
* Ultrasonographers