Dwarfism

What is Dwarfism?
Dwarfism is short stature that results from a genetic or medical condition. It is generally defined as an adult height of 4 feet 10 inches (147 cm) or less. The average adult height among people with dwarfism is 4 feet (122 cm).

There are over 200 different conditions that cause dwarfism. Most people with dwarfism have normal intelligence and live long, fulfilling lives.

Types & Symptoms

Dwarfism is divided into two broad categories:

1. Disproportionate Dwarfism

The most common type. Some parts of the body are small, while others are average size.

• Trunk: Usually average size.
• Limbs: Short arms and legs (especially upper arms/thighs).
• Head: Disproportionately large with a prominent forehead.
• Fingers: Short, often with a separation between the middle and ring fingers.
• Mobility: Limited motion at the elbows.

2. Proportionate Dwarfism

The body is small all over. All parts (head, trunk, limbs) are small to the same degree.

• Result of medical conditions limiting overall growth (like hormone deficiency).
• Height is below the third percentile on standard pediatric charts.
• Delayed sexual development during adolescence.

Causes

Most cases result from a random genetic mutation in the sperm or egg, meaning parents of average height can have a child with dwarfism.

• Achondroplasia: The most common cause. A genetic disorder affecting bone growth.
• Turner Syndrome: A chromosomal condition affecting only females (missing or altered X chromosome).
• Growth Hormone Deficiency: The pituitary gland fails to produce enough growth hormone.
• Poor Nutrition: Severe malnutrition can lead to proportionate dwarfism.

Complications

Health issues vary by type but often include:

• Skeletal: Bowed legs, hunched back (kyphosis), or swayed back (lordosis).
• Spinal: Pressure on the spinal cord at the base of the skull (spinal stenosis), causing pain or numbness.
• Ear Infections: Frequent infections due to skull shape, risking hearing loss.
• Sleep Apnea: Difficulty breathing during sleep.
• Crowded Teeth: Due to smaller jaw size.

Diagnosis

Doctors track growth carefully during well-baby visits. If dwarfism is suspected, tests include:

• Growth Charts: Plotting measurements to see trends.
• Imaging (X-ray/MRI): To check skull and skeletal abnormalities or pituitary gland issues.
• Genetic Tests: To identify specific mutations (like Turner syndrome).
• Hormone Tests: To measure growth hormone levels.

Treatment

Most treatments aim to alleviate complications rather than increase height.

1. Surgical Options

• Corrective Surgery: Inserting metal plates or rods to straighten bowed legs or correct spinal curvature.
• Limb Lengthening: A controversial procedure involving breaking the bone and separating sections to grow new bone in the gap. It carries risks and is a personal decision.

2. Hormone Therapy

• Growth Hormone: Injections for children with hormone deficiency to help them reach maximum potential height.
• Estrogen Therapy: For girls with Turner

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