A congenital skeletal disorder, also known as skeletal dysplasia, refers to abnormal fetal bone development that causes skeletal deformities that are present at birth. The incidence of skeletal dysplasia is one out of every 4,000 to 5,000 births, according to the Department of Health and Senior Services. A genetic mutation can cause a number of different skeletal disorders.
Achondroplasia
Achondroplasia is a genetic bone growth disorder that causes the most common type of dwarfism. Children develop achondroplasia from a defective gene inherited from the parent. If one parent has the gene for achondroplasia, an infant has a 50 percent chance of inheriting the disorder, increasing to 75 percent when both parents possess the gene, according to the National Institutes of Health. Most symptoms of achondroplasia are apparent at birth including bowed legs, decreased muscle tone, abnormal hand appearance, short stature, prominent forehead, short arms and legs and disproportionately large head. During a prenatal ultrasound, babies with achondroplasia often show excessive amniotic fluid. Though people with achondroplasia seldom reach five feet in height, no special treatments are usually required. However, infants who receive the achondroplasia gene from both parents rarely live longer than a year.
Osteogenesis Imperfecta
Osteogenesis imperfecta, also known as brittle bone disease is a genetic disorder in which bones break easily. The National Institutes of Health explains that osteogenesis imperfecta occurs due to a gene mutation that affects the production of collagen proteins which are vital to strong bones. Most often, the mutation occurs when one parent carries the defective gene but a random defective gene may also cause the disorder. Symptoms of osteogenesis imperfecta often include multiple bone fractures, early hearing loss and a bluish tint to the whites of the eyes. In its severest form, osteogenesis imperfecta can include bowed legs and arms and an abnormal curvature of the spine. Osteogenesis imperfecta has no cure, but physicians often use medications such as biphosphonates to help build bone density which can help reduce pain and fracture rate.
Marfan Syndrome
Marfan syndrome is a congenital disorder that affects connective tissues, which can cause complications of the heart and blood vessels. According to the MayoClinic.com, Marfan syndrome occurs due to an autosomal dominant gene, meaning that only one parent must possess the gene to pass it on to the child. Marfan syndrome affects many body systems and symptoms of the genes can vary dependent upon the individual. Skeletal signs of Marfan syndrome include disproportionately long limbs flat feet, a curved spine, tall and slender build and a breastbone that protrudes outward or dips inward. People with Marfan syndrome may also experience nearsightedness and heart problems. While no treatment exists for Marfan syndrome, physicians often use medications and surgery to treat any complications arising from the condition.
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