Dwarfism

Dwarfism is of two main types:

• Proportionate short stature (PSS): In this type of dwarfism, the person shows a general lack of growth in the body, arms and legs. The most common cause of PSS is genetic—meaning you were born to dwarf parents. It can also be due to the body's inability to produce enough growth hormone. Certain genetic syndromes, such as Turner syndrome, Noonan syndrome and Prader-Willi syndrome, can also result in PSS.
• Disproportionate short stature (DSS): In this type of dwarfism, the person has particularly short arms and legs. The most common cause of DSS is a rare genetic condition called achondroplasia where there is poor bone growth, resulting in short upper arms and thighs. It is usually not genetically transferred. Another reason for DSS is spondyloepiphyseal dysplasia congenita (SED congenita) where the person has damaged type II collagen which interferes with the development of bone and connective tissue.

The signs and symptoms of dwarfism could be different for different people. The symptoms of disproportionate dwarfism are as follows:

• Large prominent forehead with a flattened bridge of the nose
• Average-sized trunk with short upper arms and upper legs
• Short hands and short fingers which may have a wide separation between them 
• Restricted mobility at the elbows
• Continuous bending of legs (bowed legs)
• Continuous swaying of the lower back
• Rare fluid accumulation around the brain (hydrocephalus)

Signs of spondyloepiphyseal dysplasia congenita (SEDC) are as follows:

• Short body structure (short trunk)
• Short neck with delicate neck bones
• Short arms and legs but average hands and feet
• Round and large chest
• Flat cheekbones
• Abnormally formed foot which is twisted or out of shape (club foot)
• Differently positioned thumbs (hitchhiker’s thumbs)
• Cleft palate
• Abnormally formed hip leading to inwards turning of the thigh bones 
• Hunching of the back due to curvature in the upper spine
• Swayed lower back
• Problems in the vision and hearing
• Inflammation in the joints making it difficult to move

The symptoms of proportionate dwarfism include:

• Slower growth rate than expected when compared with another child of the same age
• Delayed puberty
• Breathing problems due to narrowing of the nasal passages. This may become apparent through signs such as snoring and sleep apnoea (breathlessness during sleep)
• Infection in the ears due to narrowing of the tubes which extend from the ears to the throat (eustachian tubes)
• Bowing of legs after the child starts walking 
• Increased curvature of the lower spine (lumbar lordosis)
• Inadequate muscle strength which prevents the child from supporting their neck and spine
• Collection of cerebrospinal fluid in the head leading to head enlargement (hydrocephalus)
• Increase in weight

The exact cause of dwarfism is still unknown. However, the common causes of dwarfism are: 

• Genetic causes: Dwarf parents are more likely to give birth to dwarf children. Mutation (change) in the genes of the baby during development inside the womb can also lead to various syndromes such as achondroplasia which result in dwarfism. Certain genetic syndromes such as the Turner syndrome, Noonan syndrome and Prader-Willi syndrome can result in dwarfism. 
• Growth hormone deficiency: Growth hormone deficiency is the absence of growth hormone in the body. A child with this condition is likely to become a dwarf. Any damage to the pituitary gland can lead to a deficiency of growth hormone in the body.
• Lack of nutrition: Poor nutrition of the baby after birth can lead to dwarfism. This lack of nutrition can either be due to lack of proper food or due to problems with the metabolism of the baby.

Dwarfism can be suspected by the doctors before birth during a prenatal ultrasound in the late pregnancy. The ultrasound of a dwarf baby would show shorter arms and legs than average, whereas the head would be larger. The doctor can also do genetic tests, also known as a DNA test, before the birth of the baby to diagnose any genetic abnormalities.

Skeletal dysplasia can be diagnosed right after birth by taking X-rays which would show if the child has differently shaped bones.

Imaging tests such as an MRI scan can be done to diagnose any abnormalities in the pituitary gland or hypothalamus both of which play a role in the growth of the body. 

Hormone tests would be done to find out the levels of growth hormone in the body.

Dwarfism cannot be prevented as such because it is mostly genetic. People who are planning to conceive should get themselves tested for any syndromes they might have. Growth hormone-related dwarfism can be prevented with the help of various therapies. Genetic testing of the baby immediately after birth can also give some time to the doctor to try out therapies to increase their height.

There is no definite treatment of dwarfism but the treatment depends on the underlying cause of dwarfism. The necessary treatment of dwarfism involves: 

• The surgical correction of abnormalities (curvatures) in the bones and spinal cord
• Removal of tonsils (tonsillectomy) and adenoids in case of breathing difficulties 
• Placement of a shunt in the brain to drain the excess fluid
• Surgical closure of the cleft palate
• Dental treatments such as dental braces for proper alignment of the teeth

1. Human growth hormone treatment for dwarfism
2. Surgery to make legs longer in dwarfism
3. Additional treatments for dwarfism

People with dwarfism may need the support of their family members and the people around them to live a better quality of life. The following things can be done to help them out:

• Treat the person equally, irrespective of their size and height. This should be kept in mind by everyone at home, school and the workplace. Teachers and administrators must make sure that the child is getting all the support they need.
• Parents should make certain changes in their houses to accommodate their child's limitations. For instance, they must make simple changes such as putting on light switch extender, making smaller stairs, smaller countertops and lowered doorknobs to give them a sense of independence around the house.