Wednesday, 22 February 2017

Dwarfism - By Smit Mehta


DWARFISM occurs when an individual person or animal is short in stature resulting from a medical condition caused by abnormal growth. In humans, dwarfism is sometimes defined as an adult height of less than 147 cm (4 feet 10 inches).

CAUSES

Dwarfism can be caused by any of more than 200 conditions. Causes of proportionate dwarfism include metabolic and hormonal disorders such as growth hormone deficiency.

The most common types of Dwarfism, known as skeletal dysplasias, are genetic. Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism.
They include:

Achondroplasia- The most common form of dwarfism, achondroplasia occurs in about one out of 26,000 to 40,000 babies and is evident at birth. Other features are :-


  • A large head with a prominent forehead
  • A flattened bridge of the nose
  • Forward curvature of the lower spine
  • Bowed legs
  • Flat short, broad feet


Spondyloepiphyseal dysplasias (SED)- A less common form of dwarfism, SED affects approx. one in 95,000 babies. Spondyloepiphyseal dysplasia refers to a group of conditions characterized by a shortened trunk,which may not become apparent until a child is between 5 and 10 years old.
Other features can include:

  • Club feet
  • Severe osteoarthritis in the hips
  • Weak hands and feet
  • Barrel-chested appearance 



Diastrophic dysplasia- A rare form of dwarfism, diatrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening).
Other signs include:


  • Deformed hands & feet.
  • Limited range of motion
  • Cleft palate
  • Ears with cauliflower appearance


SYMPTOMS 

There are more than 200 various medical conditions associated with dwarfism. Generally, dwarfism is categorized in disproportionate and proportionate.

Proportionate dwarfism- This condition is due to certain congenital medical conditions and conditions during childhood. It restricts overall growth & development. Some disorders causing proportionate dwarfism can result in mental retardation. A deficiency of growth hormone, is most most common cause of this type.
Signs of the symptoms of dwarfism are:-

  • Slow growth before age of 5.
  • Period of little or no change in height.
  • Height below the 5th percentile on standard pediatric growth charts.
  • Delayed or not at all sexual development during adolescence
  • Adult height usually less than 5 ft.


Turner Syndrome can also cause proportionate dwarfism. This disorder causes short stature & impaired maturation in women. Sign & Symptoms of this disorder are:

  • An adult of average height of 4 feet 8 inches.
  • Puffy hands & feet at birth and during infancy.
  • Excess skin at the neck at birth.
  • Kidney problems.
  • Detect of heart & blood vessels.


Disproportionate dwarfism- People with disproportionate dwarfism have an average size trunk & very short arms. Some may have a very short trunk & small but disproportionately arms. Their head is larger than the body. Almost all people with disproportionate dwarfism possess normal intellectual capacities. In about 70% cases, achondroplasia is the main cause.
Some of the Symptoms of this disease are:

  • An adult of average height of about 4 feet.
  • Short arms & legs, especially upper arms & legs.
  • An average size trunk.


A disorder known as Spondyloepiphyseal dysplasia congenita(SEDC) is one of the most common causes of disproportionate dwarfism.
Signs & symptoms of this disease are:


  • An adult of height ranging from 3 feet to just above 4 feet.
  • A short neck.
  • Slightly flattened cheekbones.
  • Short arms & legs.
  • Hip deformities, due to which thigh bones turn inwards.
  • Progressive hunching curvature of upper spine.



TREATMENT

Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. In many cases, people with dwarfism have orthopedic or medical complications. Treatment of these can include:

  • Insertion of a shunt to drain excess fluid & relieve pressure on the brain.
  • A tracheotomy to improve breathing through small airways.
  • Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs.
  • Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils, small facial structures.
  • Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal cord compression.

By Smit Mehta

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