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=**Cause and Effect of Congenital Disease on The Skeletal System**=

= = Congenital Disease is a disease, or defect, that happens during or before birth. It can also develop during the first month of life, when this occurs it is often referred to as [|Neonatal Disease]. This occurs when there is a genetic abnormality in the uterus. The abnormalities are refered to as [|morphogenisis], [|infection] or a [|chromosomal abnormality.]

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=Types of Congenital Bone Defects=

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Achondroplasia
"[|Achondroplasia] is a congenital and often hereditary skeletal disorder characterized by a unique form of dwarfism and bone deformity resulting in a disproportinate shortness of the extremities relative to the trunk.

Symptoms:
The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:media type="youtube" key="Bn7eGRsYYGI" height="278" width="399" align="right"
 * Abnormal hand appearance with persistent space between the long and ring fingers
 * Bowed legs
 * Decreased muscle tone
 * Disproportionately large head-to-body size difference
 * Prominent forehead (frontal bossing)
 * Shortened arms and legs (especially the upper arm and thigh)
 * Short stature (significantly below the average height for a person of the same age and sex)
 * Spinal stenosis
 * Spine curvatures called kyphosis and lordosis"

Source: []

===[|Testing for Achondroplasia]=== "The molecular diagnosis of achondroplasia before birth is possible if there is suspicion of the diagnosis or an increased risk (such as when a parent is affected by achondroplasia). In families in which both parents have achondroplasia, prenatal diagnosis may be particularly useful, the aim being to distinguish fatal homozygous achondroplasia (with two copies of the defective gene) from heterozygous achondroplasia (with one copy of the achondroplasia gene) from normal. Diagnosis before birth is accomplished by examining cells obtained by chorionic villus sampling (CVS) or amniocentesis" Courtesy of: http://www.medicinenet.com/achondroplasia/page2.htm

Treatment
There is not a current treatment for Achondroplasia. It is something that people affected has to deal with. It causes lifelong problems that one has to learn to deal with. There has been research done on the controversial subject of limb lenthening and even some hormone injections.

Definiton
Osteogenesis Imperfecta is an inherited connective tissue disorder with extremely severe bone fragility. This is the lethal form of "brittle bone disease." Osteogenesis imperfecta type 2 is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures. This disease (also called osteogenesis imperfecta congenita or Vrolik disease) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type 2 have been identified in both the COL1A1 and COL1A2 genes. (COL1A1 is the gene for type 1 alpha-1 chain of collagen(COL1A1) and is located in chromosome17q21.31-q22.05. COL1A2 is the gene for type 2 alpha-chain of collagen (COL1A2) which is in chromosome 7q22.1).

Causes
"Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most infants with more severe forms of osteogenesis imperfecta (such as type II and type III) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene. Less commonly, osteogenesis imperfecta has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene. Some cases of osteogenesis imperfecta type III are autosomal recessive; these cases usually result from mutations in genes other than COL1A1 and COL1A2. When osteogenesis imperfecta is caused by mutations in the CRTAP or LEPRE1 gene, the condition also has an autosomal recessive pattern of inheritance." Source: []

Symptoms
"There are different types of osteogenesis imperfecta with symptoms that range from mild to severe. Each person with the condition may have a different combination of symptoms. All people with OI, however, have weaker bones. Some common symptoms of OI include: Source: []
 * Short stature
 * Triangular-shaped face
 * Breathing problems
 * Hearing loss
 * Brittle teeth
 * Bone deformities, such as bowed legs or scoliosis"

Treatment
"While there is no cure for osteogenesis imperfecta, there are ways to improve a child's quality of life. Treatment is individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of healthcare professionals, including several types of doctors, a physical therapist, a nurse-clinician, and a social worker. Support from a social worker or psychologist is very helpful for both the child and the family, and often becomes even more important during adolescence.

Nonsurgical Treatment
In most cases, treatment is nonsurgical. Low-impact exercise, such as swimming and walking, can help strengthen bones and the muscles that support them. Exercise is part of a healthy lifestyle for every child.
 * **Medication.**Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more severe osteogenesis imperfecta, bisphosphonate treatment often reduces the number of fractures and bone pain. These medications must be administered by properly trained doctors and require close monitoring.
 * **Immobilization.**Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.
 * **Exercise.** After a fracture, movement and weight bearing are encouraged as soon as the bone has healed. Specific exercises will increase mobility and decrease the risk of future fractures.

Surgical Treatment
Surgery may be recommended in cases of:
 * Repeated fractures of the same bone
 * Fractures that do not heal properly
 * Bone deformity, such as scoliosis

Source: []
 * Rodding.** Metal rods may be inserted in the long bones of the arms and legs to help reinforce the bone, and subsequently lessen the number of fractures. Some rods are a fixed length and must be replaced as a child grows. Other rods are designed like telescopes, and they expand as a child's bones grow. There are,however, other complications that may occur with telescoping rods. Do not hesitate to ask your orthopaedic surgeon about both rodding options.
 * Spinal fusion for scoliosis.**Although bracing is the usual treatment for scoliosis, it is not often effective in children with osteogenesis imperfecta because the ribs will become deformed from the brace, without preventing the scoliosis from worsening. Spinal fusion, a surgery in which the bones of the spine are realigned and fused together, may be recommended when the scoliosis becomes severe."

Spina Bifida
"Spina Bifida -which literally means "cleft spine," is characterized by the incomplete development of the brain, spinal cord, and/or [|meninges] (the protective covering around the brain and spinal cord). It is the most common [|neural tube defect]in the United States - affecting 1,500 to 2,000 of the more than 4 million babies born in the country each year. "- []

According to (medicinenet.com) there are four different types of Spina Bifida:
 * [|occulta],
 * closed neural tube defects,
 * [|meningocele], and
 * [|myelomeningocele]

Causes
"The exact cause of spina bifida remains a mystery. No one knows what disrupts complete closure of the neural tube, causing a malformation to develop. Scientists suspect genetic, nutritional, and environmental factors play a role. Research studies indicate that insufficient intake of folic acid - a common B vitamin - in the mother's diet is a key factor in causing spina bifida and other neural tube defects. Prenatal vitamins that are prescribed for the pregnant mother typically contain folic acid as well as other vitamins." Source: []

Effects
"Complications of spina bifida can range from minor physical problems to severe physical and mental disabilities. It is important to note, however, that most people with spina bifida are of normal intelligence. Severity is determined by the size and location of the malformation, whether or not skin covers it, whether or not spinal nerves protrude from it, and which spinal nerves are involved. Generally all nerves located below the malformation are affected. Therefore, the higher the malformation occurs on the back, the greater the amount of nerve damage and loss of muscle function and sensation. In addition to loss of sensation and paralysis, another neurological complication associated with spina bifida is Chiari II malformation—a rare condition (but common in children with myelomeningocele) in which the brainstem and the cerebellum, or rear portion of the brain, protrude downward into the spinal canal or neck area. This condition can lead to compression of the spinal cord and cause a variety of symptoms including difficulties with feeding, swallowing, and breathing; choking; and arm stiffness. Chiari II malformation may also result in a blockage of cerebrospinal fluid, causing a condition called hydrocephalus, which is an abnormal buildup of cerebrospinal fluid in the brain. Cerebrospinal fluid is a clear liquid that surrounds the brain and spinal cord. The buildup of fluid puts damaging pressure on the brain. Hydrocephalus is commonly treated by surgically implanting a shunt—a hollow tube—in the brain to drain the excess fluid into the abdomen. Some newborns with myelomeningocele may develop meningitis, an infection in the meninges. Meningitis may cause brain injury and can be life-threatening. Children with both myelomeningocele and hydrocephalus may have learning disabilities, including difficulty paying attention, problems with language and reading comprehension, and trouble learning math. Additional problems such as latex allergies, skin problems, gastrointestinal conditions, and depression may occur as children with spina bifida get older"- []

Treatments
"There is no known cure for nerve damage due to spina bifida. To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. The spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen or chest wall. However, if spina bifida is detected during pregnancy, then open fetal surgery can be performed."- []

=Names of Congenital Bone Defects= = =

This is a small list of some of the well-known congenital bone defects:
 * Enchondromatosis (Ollier's Disease)
 * Hereditary Multiple Exotosis (Osteochondromatosis)
 * Osteopetrosis (Marble Bone Disease, Osteosclerosis) [[image:http://www.mdguidelines.com/images/Illustrations/osteo_po.jpg width="256" height="233" align="right"]]
 * Osteogenesis Imperfecta (Brittle Bones, Fragilitas Ossium)
 * Achondroplasia