Achondrogenesis is a congenital defect characterized by a short body, short limbs, and skeletal abnormalities.
There are several human diseases caused by the lack or malfunction of the Golgi. One is achondrogenesis a congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities.
DefinitionAchondrogenesis is a rare type of growth hormone deficiencyin which there is a defect in the development of bone and cartilage.Causes, incidence, and risk factorsAchondrogenesis 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%.SymptomsVery short trunk, arms, legs and neckHead appears large in relation to the trunkSmall lower jawNarrow chestSigns and testsX-rays show bone problems associated with the condition.TreatmentThere is no current therapy. Talk to your doctor about care decisions.Genetic counseling may be appropriate.Expectations (prognosis)The outcome 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.ComplicationsThis condition is often fatal early in life.Calling your health care providerThis condition is often diagnosed on the first examination of an infant.