Having a child diagnosed with achondraplasia is a horrible sentence to have handed down prior to birth or shortly after. This condition can be diagnoses before birth or after. Ultrasound testing may cause suspicion of the disease. Not all patients look the same. In few cases it is inherited from a parent. Most cases are a surprise. It is caused by a mutation in the gene of one of the parents. Parents with achondroplasia have a 50/50 chance of passing on the gene. There’s a 25% chance for a normal child, a 50% chance for a child with achondroplasia and a 25% chance the child will have two achondroplasia genes. When either or both parents have achondroplasia, prenatal testing is typically done. There are two types of Achondroplasia: homozygous and heterozygous. In homozygous it is termed “fatal” as there rare two copies of the defective gene. There are severe breathing problems and hydrocephalus that lead to an early death. In heterozygous, there is a presence of one copy of the gene. In diagnosis, there are one of two or both types of tests are ordered. In chronic villus sampling or …show more content…
Achondraplasia is the most common form of dwarfism. It does not affect the level of intelligence. According to the Journal of Pediatrics and Child Health, there are three distinguishing features of Achondroplasia: (Ireland, et al., 2013). 1. Achondraplasia is the most common form of short limbed, short stature and is associated with delays in acquisition of gross motor milestones. 2. Children with achondraplasia adopt unusual movement strategies presumed to be linked to the characteristic biomechanical features including macrocophaly and disproportionate short stature. 3. A clear understanding of musculoskeletal factors that influence gross motor development in this group will assist clinicians to provide more specific information to