Hypochondroplasia
Hypochondroplasia Causes
Hypochondroplasia is a congenital disorder. It is caused by a defect of a gene responsible for proper growth and development. The defect is caused by mutations in some part of this gene. This gene is important in activities such as cell division, differentiation and migration.
Hypochondroplasia Definition
Hypochondroplasia is a developmental disorder characterized by a stature that is short and disproportional and micromelia, the condition wherein the head appears large when compared to the other parts of the body. This condition tends to affect females more than males.
Hypochondroplasia Diagnosis
It is extremely difficult to diagnose hypochondroplasia. This is because there is no one feature that is exclusive to this condition. The common practice is to combine x-ray and physical findings. DNA testing is sometimes conducted but it only detects 70% of the mutations that cause hypochondroplasia.
Hypochondroplasia Symptoms and Signs
Individuals suffering from hypochondroplasia usually appear normal at birth. Symptoms appear as the child grows. One of the most common symptoms of this condition is the improper development of the arms and legs as well as the torso. This results in the limbs being shorter and the torso being thicker and fatter than normal. Intelligence is not affected by the disease.
Hypochondroplasia Treatment
Orthopedic surgery and physical therapy are the two standard treatments for hypochondroplasia. Patients and their families are also encouraged to undergo genetic counseling.