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Dwarfism

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Overview of Dwarfism

Dwarfism Meaning in Urdu

بونا پن جینیاتی یا طبی مسائل کی وجہ سے لاحق ہوتا ہے۔ اس مسئلے کا شکار افراد کا قد چار فٹ دس انچ ہوتا ہے۔ بونا پن زیادہ تر ان بچوں کو شکار بناتا ہے جن کے والدین کا قد بھی چھوٹا ہوتا ہے۔ تاہم لمبے قد کے افراد کی اولاد بھی اس کا شکار ہو سکتی ہے، لیکن ایسا بہت کم دیھکنے میں آتا ہے۔ بونا پن صرف جسمانی ساخت کو متاثر کرتا ہے۔ اس کے ذہن صلاحیت پر منفی اثرات ظاہر نہیں ہوتے۔ حمل سے پہلے اگر سپرم یا انڈے کی ساخت میں تبدیلی واقع ہو جائے تو بونا پن کے خطرات میں اضافہ ہو جاتا ہے۔

Dwarfism (Bonapan بوناپن) is defined as adults who have a height of 4 feet and 10 inches (147centimeters) or less whether it can be a genetic or medical condition. The average height of these people is about 4 feet (122cm). 

It is also termed as short stature which is preferable to dwarfism. It is often called little people.

Be careful about the choice of words whenever you call the small heighted people. The defined term must be ethical and respectful. Also, be sensitive to the problems that they face in everyday life.

Signs and Symptoms of Dwarfism

Depending upon its type, the symptoms of dwarfism may vary.

1. Disproportionate Dwarfism Symptoms

Disproportionate dwarfism patients typically do not affect the brain or intellectual development. If it is associated with hydrocephalus or excess fluid around the brain, then the negative impact on the brain has been determined.

Other symptoms can involve disproportionate dwarfism:

  • Adults are typically about 4 feet tall
  • Average-size torso and very short limbs, especially in the upper halves of arms and legs
  • Short fingers
  • Adequate spaces between the middle and ring fingers
  • Limited elbow mobility
  • Large head
  • Prominent forehead
  • Flattened bridge of the nose
  • Bowing of legs that progressively worsens over time
  • Hunched back that worsen as time passes by

2. Proportionate Dwarfism Symptoms

Proportionate dwarfism is a congenital condition that develops at the time of birth. It is caused by the inactivation of the pituitary gland. The gland produces low amounts of growth hormones.

The apparent symptoms of proportionate dwarfism are a smaller head, arms, and legs. But all are in the same size and have symmetry with each other, even the organ systems as well. 

Other signs of proportionate dwarfism in children are:

  • The growth rate is slower than normal
  • Height is below average
  • Have delayed or no sexual development during the teen years

Types of Dwarfism

Depending upon the different medical conditions or body size of people, it is divided into two broad categories. 

  • Disproportionate Dwarfism: In this type, the body size of individuals is not symmetrical. It means some parts of the body are small, some are average or above average.  It is caused by inhibition of the development of bones. Achondroplasia is involved in this type of dwarfism.

  • Proportionate Dwarfism: A body size of people is proportionately small because all parts of the body are small in the same size. It is present in people at the time of birth but signs appear in early childhood. At this time, parents usually observe the growth and development of their children. Such a type of condition is also known as pituitary dwarfism.

Causes of Dwarfism

About more than 300 medical conditions that may cause dwarfism. Among them, the most common condition is skeletal dysplasias. It is a genetic condition caused by abnormal bone growth. It underlies the disproportionate dwarfism. The following conditions are involved in skeletal dysplasia.

1. Achondroplasia

At the time of birth, the cartilage of infants transforms into a harder bone known as achondroplasia. 

Achondroplasia is a genetic disorder that mainly affects the arms and leg bones. It can be identified as the following signs of the disease.

  • A normal trunk of a body
  • Difficult to move extremely short arms and legs
  • A large forehead

It is a rare medical condition in which two copies of mutated genes are inherited from the parents.  This results in very short bones and poorly developed rib cages. Other complications associated with it are scoliosis (bone problems), breathing difficulty, and suffer from spine constriction (spinal stenosis)

Children with this disorder mostly die at the time of birth or during infancy, because of breathing problems.

2. Spondyloepiphyseal Dysplasia Congenital(SEDc)

Like achondroplasia, it is a genetic mutated disorder that causes a short torso, spine, arms, and legs. These regions do not grow as much, but usually develop hands, feet and a head of typical size.

People with SEDc may experience a range of health complications, including

  • Spine and hip problems
  • Foot deformities
  • Cleft palate
  • Joint diseases

SEDc may change the structure of facial bones that look flat.

3. Diastrophic Dysplasia

It is due to a gene mutation. It mainly affects cartilage and bone development, causing very short arms and legs and short stature.

Diastrophic Dysplasia people mainly have spine deformities known as hitchhiker’s thumbs. This changes the shape of the thumbs.

It often develops joint pain, mobility issues, and breathing problems since childhood. Along with it, scoliosis, clubfoot, or difficulty moving usually a diseased person feels.

Dwarfism also occurs due to malnourishment and metabolic disorders. Some of them are given below:

  • Organ failure due to the inability to produce hormones or metabolize nutrients
  • Malnourishment or lack of sufficient food, resulting in growth problems
  • Insufficient levels of certain hormones, particularly human growth hormone (HGH)

All of the above are secondary causes of dwarfism. It means they are not genetically produced and may be reversible with early detection and prompt treatment.

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Risk Factors of Dwarfism

Here are some of the important risk factors for dwarfism to know about:

  • Genetics: The condition is inherited in most cases. However, other than inherited genes, spontaneous changes in your own genetic makeup can cause dwarfism.
  • Malnutrition: Not getting enough nutrition is an important risk factor for dwarfism.
  • Hormone Deficiency: Insufficient growth hormone in the body can also be an important risk factor for dwarfism

Health Complications of Dwarfism

Many dwarfism-related complications can vary greatly according to its types.

1. Disproportionate Dwarfism Complications

The underlying complications are affected by the skull, spine, and limb area.

  • Motor skills development abnormalities such as sitting up, crawling, and walking
  • Constant ear infections 
  • Hearing loss
  • Bowed legs
  • Sleep apnea ( Breathing issue during sleeping)
  • Feeling pressure on the spinal cord 
  • Accumulation of excess fluid around the brain (hydrocephalus)
  • Crowded teeth
  • Back problems such as hunched back
  • Arthritis
  • Being overweight causes joint and spine problems
  • Pregnant women with disproportionate dwarfism suffer from respiratory problems
  • Proportionate Dwarfism

People with proportionate dwarfism may face the following complications:

  • Turner syndrome leads to heart problems
  • Lack of sexual maturation associated with growth hormone deficiency or Turner syndrome affects both physical development and social functioning

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Prevention

Taking the following steps may help to reduce or avoid people with dwarfism disorders.

  • Pregnant women should keep themselves away from radiation because it could affect the growth hormone, hence resulting in dwarfism.

  • High levels of stress can produce epinephrine (adrenaline) which has a negative effect on the growth hormone levels in the body and cause dwarfism.

If dwarfism has been diagnosed at the time of birth or during the prenatal period through ultrasound then a doctor monitors the patient since childhood. But if the signs of dwarfism have been observed in early childhood then consult a medical professional.

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Diagnosis

The pediatricians will likely examine a series of factors to assess the children's growth and determine whether they have a dwarfism-related disorder or not. In some cases, the doctors suspect disproportionate dwarfism during a prenatal ultrasound.

Given diagnostic tests may involve assessing the children’s growth and development.

  • Measurements: Generally, a doctor measures the height, weight, and head circumference. The measurement chart of the child has been plotted according to the visit.  This helps for identifying abnormal growth, such as delayed growth or a disproportionately large head.
  • Appearance: To examine the distinct facial and skeletal features of the children. Because it is linked with several dwarfism disorders. 
  • Imaging Studies: To perform the imaging tests like X-Ray, MRI, or CT scan helps to identify the abnormalities of the skull and skeleton. Different imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency. A magnetic resonance imaging (MRI) scan may identify the abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
  • Genetic Tests: This test is conducted if a child has dwarfism due to its parents. It has been suggested in turner syndrome or any other genetic condition.
  • Family History: It is important to decide whether it is inherited from family or relatives. 
  • Hormone Tests: In this test, the level of growth hormones or other hormones responsible for growth and development has been assessed.

Treatment of Dwarfism | When to Consult a Doctor

The main aim of treatment is to treat the complications along with dwarfism but it cannot increase the stature. 

1. Surgical Procedures:

Surgical procedures deal with problems of people who suffer from disproportionate dwarfism which is given below:

  • Treat the directions of bones in which they are growing.
  • To stabilize the shape of the spine
  • To increase the opening size in bones of the spine to enhance the pressure on the spinal cord
  • To remove excess fluid around the brain(hydrocephalus) by insertion of a shunt

2. Hormonal Therapy

For individuals with dwarfism due to growth hormone deficiency are treated by synthetic injection of growth hormones.

Most children receive an injection for several years daily until they meet the average adult height. This treatment is continued on a long-term basis to ensure adult maturation such as muscle or fat gain. It is to give with other related hormones if it is deficient in children. 

The treatment is given to girls with Turner syndrome, and also requires estrogen and other related hormonal therapy to meet the needs of adult sexual development. The estrogen replacement therapy is continued to the time when women achieve the menopause period. 

There is no effect of growth hormone supplementation on children with achondroplasia. 

3. Limb Lengthening

Some people with dwarfism decide to conduct the surgery called extended limb lengthening. This procedure is recommended if the patients are agreed for this surgery. They can handle multiple risks and may develop emotional and physical stress during this procedure.

4. Special Health Care

Regular follow-ups and ongoing care by a doctor can increase the life span of children and also deal with their complications properly. Children who suffer from this disorder should be carefully monitored to treat their life problems.

If dwarfism has been diagnosed at the time of birth or during the prenatal period through ultrasound then a doctor monitors the patient since childhood. But if the signs of dwarfism have been observed in early childhood then consult a medical professional.

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