Achondrogenesis - Rare type of growth hormone deficiencies

Achondrogenesis can be inherited as an autosomal or dominant recessive genetic trait.

Achondrogenesis is a rare type of growth hormone deficiencies that affect cartilage and bone development. Achondrogenesis is a skeletal dysplasia and a small body, short limbs, and other skeletal abnormalities are the features of this disease. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. The syndrome achondrogenesis results from abnormal bone growth and cartilage formation.


Symptoms are : small body(dwarfism),flat face,Very short trunk, arms, legs and neck, head appears large in relation to the trunk ,Small lower jaw ,Narrow chest resulted difficulty in breathing ,short limbs, hernia, underdeveloped lungs, small chin and large abdomen short fingers and toes etc.


Achondrogenesis is inherited, which means it is passed down through families.

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%. Mutations in the COL2A1 and SLC26A2 genes cause achondrogenesis.


There is no current therapy. Palliative care treatment is the only treatment for the achondrogenesis patients. Patient care is important.


Genetic counseling is an important preventive method. Ultrasound examination or prenatel molecular genetic testing is help to identify disease ,and to prevent the birth of infants with achondrogenesis. Prenatal diagnosis is done by ultrasonography and molecular studies.

Alternative treatment:

Nutritional and herbal therapy is found effective in some cases. In India Ayurvedic treatment is also said to be effective for achondrogenesis. Breathing excersice is also important to develop lungs.



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Winfred said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals:

I hope it helps. Thanks, AccessDNA

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