Dwarfism

Introduction 

 In the subject of Biology and the consequent medical studies, various types of issues that affect growth and body shape are important topics. Among them, dwarfism is a condition that is well-covered, focusing on medical and genetic reasons and types. 

The condition is not very common, especially in India, where less than 10 lakh such cases are reported each year. However, different diagnostic tests are carried out to find dwarfism examples, and certain factors indicate the possibility of this condition. 

Definition of Dwarfism 

The dwarfism definition is a degree of growth defection in people, mainly height. It is not easy to highlight the exact delineation, and it is necessary to establish it arbitrarily. Typically, the short stature results from medical or genetic components. 

The highest a dwarfed adult can grow is 4 feet and 10 inches or 147 cm. The average height here is around 4 feet or 122 cm. The condition does not occur particularly at an older age or any specific time. It can affect any age group or gender theoretically. 

Different Dwarfism Types 

The following are the main distinctions of dwarfism. 

• Achondroplasia- The human body structure is disproportionately formed, with a medium-sized trunk and shorter limbs. For some people, their head has a larger shape than the rest of their body size. Other possible signs include a waddling walking type, bowed legs, limited elbow extension, and lordosis in the body part. 

• Spondyloepiphyseal Dysplasia- People suffering from this condition typically have a smaller trunk size. Other types of irregular deformations are visible in their spine and limbs, like very long arms. They may also experience eye issues. 

• Hypochondroplasia- Patients have the symptoms of achondroplasty. However, the signs are less prominent. Therefore they are taller than the average dwarf. 
• Diastrophic Dysplasia is a notable version of dwarfism with symptoms like hand deformities, malformation, spinal deformity like scoliosis, knee dislocation, and hip dislocation. People suffering from this have to move with wheelchairs or crutches. 

Characteristics of Dwarfism 

Common characteristics of dwarfism include the following:

• Adults have less than or exactly 147 cm or 4 feet 10 inches in height. 
• Younger patients with issues like cleft palate or cleft lip might have a GH deficiency. 
• After crossing 2-3 years of age, kids with dwarfism grow very slowly, less than 2 inches per year. 
• Misalignment in their bone structure or bone malformations are possible. 
• Children with this condition might show a normal intelligence level and standard body proportions. However, they have a younger-looking face than those in the same age range and have a plumper body composition. 
• People with severe dwarfism would notice issues in some of their organs’ functionality, like the liver or brain. 
• Patients afflicted with dwarfism may see decreased pulmonary function and limited growth in the lungs. 
• Malformations in bone growth are common, but they happen at diverse rates related to dwarfism. 

Causes of Dwarfism 

The following are the main reasons for dwarfism. 

• Achondroplasia 

This is a type of genetic issue. However, in most cases, the parents of the afflicted individuals have average-sized patients. People with achondroplasia have one uninfluenced or dormant gene and one already mutated gene. 

• Deficiency in growth hormone

While some reports related genetic mutation as a cause of growth hormone-related deficiency, the exact reason(s) are not present yet. 

• Turner syndrome

Females are the main ones who suffer from this type of condition. Generally, two X chromosomes make one female child; these patients have one fully functional X chromosome and one partial X chromosome or do not have one entirely.

• Intrauterine growth retardation

Fetuses get this condition while inside the womb of the mother. The pregnancy can complete the full term. However, the child is smaller from birth; the state is proportional dwarfism. 

Risk factors 

There are particular risk factors to dwarfism, though most cases notice a genetic mutation. For some patients, the symptoms occur spontaneously. However, the transformation in genes happens suddenly after birth, so it gets undiagnosed for longer. 

Genetic disorders that are inherent and cause this condition are either dormant in nature or recessive (one gene from both patients with this genetic mutation). 

Other common risk factors are malnutrition or hormonal deficiencies. For the latter, it is easier to treat dwarfism cases with time. In the case of the former, very severe malnutrition causes a suspended growth rate only. The right diet can help treat the condition. 

Related Complications of Dwarfism

People suffering from dwarfism can notice additional health complications, affecting sections like back, leg, lung function, and brain function. In the case of disproportionate dwarfism, the complications include:

• Arthritis 
• Bowed legs 
• Progressing back hunch
• Spinal pressure near the base area of the skull 
• Sleep apnea
• Spinal stenosis or narrowed channel at the lower spine section, causing more spinal cord-centric pressure 
• Weight gain 
• Delayed motor development and skills 
• Hydrocephalus or too much fluid in the brain 

Women suffering from dwarfism can notice complications during pregnancy, like respiration issues. Plus, only cesarean delivery is possible for such patients. 

People who have proportionate dwarfism can notice bad organ development, which can cause additional health issues.

Treatments for Dwarfism 

There are different types of treatments given to people with the dwarfism condition. These include synthetic-based growth hormone injections one time each day or multiple times a week. Very serious complications/effects of the growth hormones are very rare. The primary effects include:

• Aches in the joints and muscles 
• Fluid retention 

In the case of disabilities, different types of physical therapies can ease the condition and symptoms. Other potential treatment methods include orthotic devices like braces or surgical procedures. 

To note, many patients with dwarfism also opt for dress enhancements like shoe lifts or hairstyles to show a taller height. In addition, many people also opt for processes like distraction osteogenesis to increase a few inches of height. However, the procedure is very costly and causes extreme discomfort and other risks. Thus, it is not a suitable choice of treatment for dwarfism. 

Conclusion 

Overall, dwarfism is a rare condition that affects people and poses a significant issue on their health, both mentally and physically. The situation is either medically caused or genetically, and no cure is available. In addition, there is no arbitrary limit to this condition; people do not only get dwarfism when they are old or young. 

Some notice the symptoms from the early years, like after birth, while others get the genetic mutation at a later period that affects their growth rate. Treatment measures are available to help manage some of the symptoms of dwarfism in cases where the cause is not very severe or treatable.