One of these following facts about achondroplasia should make you more aware about your kid. Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. People with achondroplasia have short stature, with an average adult height of 131 centimeters (52 inches) for males and 123 centimeters (48 inches) for females. Achondroplastic adults are known to be as short as 62.8 cm (24.7 in). Furthermore, to get to know more about this, here are some other facts about achondroplasia you might be more aware of.
Facts about achondroplasia 1: Cause
The disorder itself is caused by a change in the gene for fibroblast growth factor receptor 3 (FGFR3), which causes an abnormality of cartilage formation. If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life.
Facts about achondroplasia 2: New Gene Mutation
New gene mutations leading to achondroplasia are associated with increasing paternal age (over 35 years old). Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis.
Facts about achondroplasia 3: Diagnosis
Achondroplasia can be detected before birth by the use of prenatal ultrasound. A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.
Facts about achondroplasia 4: Fetal Ultrasound
The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended. Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.
Facts about achondroplasia 5: Treatment
Although used by those without achondroplasia to aid in growth, human growth hormone does not help people with achondroplasia. However, if desired, the controversial surgery of limb-lightening will lengthen the legs and arms of someone with achondroplasia.
Facts about achondroplasia 6: Epidemiology
Achondroplasia is one of 19 congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia.
Facts about achondroplasia 7: Dogs
Based on their disproportionate dwarfism, some dog breeds traditionally have been classified as “achondroplastic.” This is the case for the dachsund, bassed hound, corgi and bullgog breeds.
Facts about achondroplasia 8: Ancon Sheep
The now-extinct Ancon sheep was created by humans through the selective breeding of common domestic sheep with achondroplasia. The average sized torso, combined with the relatively smaller legs produced by achondroplasia were valued for making affected sheep less prone to escape without impacting the amount of wool or meat each sheep could produce.
Facts about achondroplasia 9: Piglets
A similar form of achondroplasia was found in a litter of piglets from a phenotypically normal Danish sow. The dwarfism was inherted dominant in the offspring from this litter. The piglets were born phenotypically normal but became more and more symptomatic as they reached maturity.
Facts about achondroplasia 10: Treatment Result
Usually, the best results appear within the first and second year of therapy.After the second year of GH therapy, beneficial bone growth decreases.Therefore, GH therapy is not a satisfactory long term treatment.
Hope you would find those achondroplasia facts really interesting, useful and helpful for your additional reading.