Deformities of Skeleton

The human skeleton supports an upright body. However, sometimes the skeletal system becomes weak and results in various deformations. The causes of skeletal deformities can be genetic, hormonal, or nutritional. The major deformities are described below:

1. Genetic Causes

Cleft Palate:
This is a condition in which the palatine processes of the maxilla and palatine bone fail to fuse. The persistent opening between the oral and nasal cavities interferes with sucking and may lead to inhalation of food into the lungs, causing aspiration pneumonia.

Microcephaly:

This is a disorder in which the skull remains abnormally small due to genetic defects. It often results in impaired brain development.

Arthritis:

A broad term that includes over 100 types of inflammatory or degenerative diseases that damage joints. The most common chronic form is osteoarthritis, a degenerative joint disease often linked to genetic defects.

2. Hormonal Causes

Osteoporosis:
It is a group of diseases in which bone resorption outpaces bone deposition, leading to a reduction in bone mass. The chemical composition of the matrix remains normal, but bones become fragile and porous.
Osteoporosis commonly occurs in aged women, usually due to decreased estrogen levels. Other contributing factors include lack of exercise, poor diet (low calcium and protein), and smoking.
Estrogen Replacement Therapy (ERT) offers protection against osteoporotic fractures.

3. Nutritional Causes

Osteomalacia (Soft Bones):
A disorder in which bones receive inadequate minerals, mainly calcium, causing them to soften and weaken. Weight-bearing bones of the legs and pelvis become deformed and painful when pressure is applied.

Rickets:
A similar condition found in children, resulting in bowed legs and deformed pelvis. It occurs due to deficiency of calcium or vitamin D. Treatment includes vitamin D–fortified milk and exposure to sunlight.

4. Disc Slip (Herniated Disc)

Each intervertebral disc acts as a cushion-like pad composed of an inner semifluid nucleus pulposus and an outer fibrous ring called the annulus fibrosus.
Discs act as shock absorbers during walking, running, and jumping.
When a person lifts a heavy object while bending forward, rupture of the annulus fibrosus may occur, causing the nucleus pulposus to protrude. This condition is known as a slipped disc.
If the protrusion presses on the spinal cord or spinal nerves, it causes severe pain or even nerve damage.
Treatment includes bed rest, traction, and painkillers; if ineffective, the affected disc may be removed surgically.

5. Spondylosis

It is a condition that causes immobility and fusion of vertebral joints, leading to stiffness and restricted spinal movement.

6. Sciatica

Sciatica is characterized by sharp, radiating pain along the path of the sciatic nerve. It often results from a herniated disc, fall injury, or improper injection into the buttock.
Depending on the nerve root affected, it can cause leg weakness or loss of movement.
If the sciatic nerve is completely severed, the leg becomes nearly useless.
Recovery is usually slow and incomplete.

7. Arthritis

Arthritis is an inflammatory or degenerative disease of the joints, leading to pain, stiffness, and swelling.

Acute arthritis usually results from bacterial infection and is treated with antibiotics.
The synovial membrane thickens, synovial fluid production decreases, and friction increases, resulting in joint pain.