Skeletal System: Diseases & Disorders ANATOMY & PHYSIOLOGY TURNER COLLEGE & CAREER HIGH SCHOOL Our skeletal system provides a framework for the muscles and helps in the basic function of movement. However, due to age and various other factors, the bones become weak and fragile and may get affected
by some common disorders. Human Skeletal Features The adult human skeletal system comprises 206 bones and the associated cartilage, tendons, ligaments as well as teeth. The bones are connected to each other through ligaments and to muscles through tendons. The skeletal system forms a supportive framework for the human body, and provides stable anchoring points for soft tissues. The skeletal system not only protects vital organs like brain,
spinal cord, heart, lungs, liver, kidneys, etc., but also acts as a reservoir of minerals, like calcium and phosphorous which are supplied to various body parts through blood. Hematophoiesis The process of formation and development of blood cells (hematopoiesis) occurs in the bone marrow of long bones. Along with the muscles, our skeletal system forms a leverage system that helps us to move our limbs and perform various activities.
Diseases, Disorders and Medical Conditions The tissues of the skeletal system are affected by degenerative wear and tear, infectious agents, genetic anomalies, etc. Some of the commonly known diseases, disorders and medical conditions of the skeletal system have been described in the following slides. Congenital and Hereditary Achondroplasia An autosomal dominant disorder
that affects growth and development of long bones (aka: dwarfism). It is characterized by bone deformation, leading to disproportionate shortness of the extremities (legs, arms, fingers and toes) relative to the trunk. Achondrogenesis Includes a set of disorders
resulting due to growth hormone deficiency, which leads to altered bone and cartilage development. The infants are stillborn or die shortly after birth. Clubfoot Also known as talipes equinovarus, it is the most common congenital disorder
which affects joints of the feet. In babies born with this disorder, one foot or both the feet point downwards and inwards, making it difficult for them to walk and move around. Hereditary Multiple
Exostoses Inherited in an autosomal dominant pattern, this disorder involves the development of benign (noncancerous) bone tumors called exostoses. Such tumors cause uneven limb growth and limited joint movements. Osteogenesis Imperfecta Also known as brittle bone disease, this genetic anomaly leads to
underproduction of cartilage causing fragile bones, loose joints, and blue sclerae. It is also inherited in an autosomal dominant pattern. Osteopetrosis It is a rare inherited disorder wherein bone reabsorption is altered due to dysfunctional osteoclasts.
This leads to increased bone density and hardening of bones. Spina Bifida It is a neural tube defect in which the skeletal tissues surrounding the spinal cord remain underdeveloped. Under normal conditions, the two sides of each vertebra join together to form a column around the spinal cord. In case of this disorder, such fusion does not
take place in certain vertebrae, leaving a slit in the spinal column. Spina Bifida Fibrous Dysplasia It is a gene mutation, which is not hereditary and occurs during the fetal development in the mother's womb.
Fibrous dysplasia is a condition where fibrous tissues start growing in place of normal bones. The fibrous tissues expand during the growth of the bones making them weaker and weaker. If the mutation occurs at the early stage of fetal development it affects more tissues however, if it occurs late a very few get affected. Since mutation occurs before birth it is considered as a genetic disorder but it is not hereditary because the sperm or egg does not pass on the mutation to the fetus.
Hypophosphatemia The decrease in phosphorous levels in the body results in hypophosphatemia. Conditions like chronic diarrhea, starvation, alcoholism, vitamin D deficiency, etc., can lead to this condition. The person suffering from hypophosphatemia will experience muscle weakness and pain in the bones. Adults suffering from this condition also experience loss of teeth at an early age and the bones become susceptible to fractures. Children with hypophosphatemia have an abnormally shaped head and their
limbs are extremely short with enlarged joints. Hypophosphatemia Rickets This disorder involves the softening and weakening of bones due to the deficiency of vitamin D, calcium and phosphate. The symptoms include pain and tenderness of bones, muscle cramps, dental and skeletal deformities, etc.
Arthritis: It is a group of diseases involving inflammation of joints. Autoimmunity, wear and tear of the joints and associated tissues, and infection are the common causes. Depending on the cause and the tissue affected, about 100 different types have been identified. Osteoarthritis, rheumatoid arthritis and
psoriatic arthritis are some of the common types. Bursitis It implies the inflammation of fluidfilled sacs called bursae, which serve as a cushion between the bone, and the tendons and/or muscles present in joints. Shoulders, knees, elbows and hips are the commonly affected joints. Such inflammation can occur due to
infections, trauma, or aging. Heel Spur A calcaneal spur is a calcium deposit causing a bony protrusion on the underside of the heel bone. On an X-ray, a heel spur can extend forward by as much as a half-inch. Although heel spurs are often painless, they can cause heel pain. They are frequently associated with plantar fasciitis, a painful inflammation of the fibrous band
of connective tissue (plantar fascia) that runs along the bottom of the foot and connects the heel bone to the ball of the foot. Osteomyelitis It is the result of bone infection, either contracted through another infected organ of the body or after surgeries involving
metal plates and rods. It is characterized by severe pain and inflammation in the infected bone, fever, chills, nausea, and weakness. Staphylococcus aureus is the most common causative agent of osteomyelitis. Osteoporosis It is one of the most common bone diseases, and is characterized by reduction in
bone mineral density. It is the result of an imbalance in the bone formation and bone reabsorption process. The bones become weak and tend to get fractured easily. Osteonecrosis Insufficient blood supply to large joints such as hips, shoulders, elbows and knees
leads to death of the bone tissues in that area. This is termed as osteonecrosis. This can occur due to injury, trauma, radiation therapy, fractures, and bone dislocations. Osteomalacia AKA soft bones
Bones are inadequately mineralized Bone pain; aka Rickets in children Need for sunlight, Vitamin D, calcium needs to be absorbed. Kyphosis Hunchback. Exaggerated curvature of
thoracic vertebrae. Common in osteoporosis, rickets, osteomalacia. Lordosis Swayback Accentuated curvature of lumbar vertebrae Common in spinal tuberculosis, osteomalacia, men with potbellies or pregnant women
Cleft Palate Congenital Right and left halves of palate fail to fuse Interferes with sucking & inhalation Surgery at 6 months & speech therapy Sprain A ligament is a tough fibrous tissue that surrounds the bones and holds them together. When this ligament is stretched too far or tears, the joint
swells up causing severe pain. As the swelling and pain increases, becomes more and more Knee and ankle sprain are the most occurring conditions. severe. the injury commonly
Scurvy It is the disease caused by the deficiency of vitamin C or ascorbic acid in the body. This deficiency leads to poor recovery of wounds and the person becomes more susceptible to bruises. It causes gum diseases, weakness and skin hemorrhages. Although an uncommon health condition, affects older and malnourished adults. The major cause of scurvy is over cooking of the food as it destroys the vitamin C content in food.
scurvy the Poliomyelitis Also called polio, this disease is highly contagious and infectious and is caused by three types of polio viruses. It affects the nervous system resulting into partial or total paralysis. It is often transmitted
through fecal-oral contact. While 90-95% of the people may not show any symptoms, there are some who experience mild symptoms like nausea, fever, decreased appetite, constipation, etc. There are three types of poliomyelitis-Abortive poliomyelitis, Non-paralytic poliomyelitis and Paralytic poliomyelitis. Paget's Disease It mostly affects older men and women.
The metabolism rate of bones is altered in the person suffering from Paget's Disease. Bones in the human body usually break down and rebuild themselves throughout life. The breakdown process of bones during this condition becomes faster than the rate of renewal. Consequently the bones become fragile, weak and susceptible to fractures and infections.
Disk Herniation The bones that make up our spine are being cushioned by soft disks, which are filled with a jelly-like substance. These disks play an important role of supporting the vertebrae and keeping them in place. However a herniated disk loses its elasticity and ruptures. When the spinal disk ruptures it gets pushed
outside its normal position causing the nerves around the area to compress. This in turn causes numbness, pain and tenderness in the area adversely affecting the functioning of the nerves and the spinal cord. Tendinitis Tendons are the tough connective tissue cords between the muscles and bones, which help muscles to move the bones. Tendinitis is the inflammation of the tendons that is caused by the overuse of muscles or due to an injury.
It usually affects joints of the knees, hips, elbows, shoulders, heels and wrists. It causes tenderness and pain near these joints. When tendinitis affects the elbow it is given a specific name Tennis elbow (Lateral Epicondylitis). Wilson's Disease Copper in the human body plays an important role of keeping the bones, nerves, collagen, etc., in a healthy state and this copper is absorbed from the food that we consume. When there is excess copper buildup, the liver excretes it out of the body with the help of bile (a substance produced in the
liver). Wilson's disease occurs when excess amount copper is not eliminated from the body starts accumulating in the liver, brain vital organs of the body. of and and other
Cancers: Osteosarcoma It is a type of bone cancer that involves the growth of cancerous tumors in the fast-growing regions of bones. It mostly occurs during childhood and adolescence, with the average age of diagnosis being 15 years.
Cancers: Chondrosarcoma It is a malignant bone cancer that originates in the cartilage. Pelvic bones, shoulder bones, and the upper part of limbs are the most common sites of origin.
It is more common in adults. Cancer: Ewing's Sarcoma It is a type of primary bone cancer and may originate in the long bones, pelvic bones or even flat bones of the skull.
It is more common in children and generally develops during puberty. The cancer then metastasizes to other body tissues as well. The well-being of our skeletal system depends on a variety of factors including genetic makeup, diet, lifestyle and exercise. Anomalies or ignorance in any of these aspects can
lead to a variety of diseases or conditions that are not only painful, but also make simple activities like lifting a pencil from the ground, extremely difficult.
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