Symptoms of Dwarfism

Whenever you go to see a circus, you might have noticed that a clown is an integral part of the circus. You must be amused by his appearance and his funny activities. But have you ever thought about why he appears so small? His appearance is affected by a medical condition, known as dwarfism.

Dwarfism is a typical physiological condition, in which the physical size of a person is extremely smaller than normal. It can be considered, when an adult has height of 4 feet 10 inches or less. Height of dwarf adults typically ranges from 2 feet 8 inches to 4 feet 8 inches.

The average height of an adult with dwarfism is 4 feet. Most dwarf people are a subject of laughter and amusement. In fact, they need a strong emotional support from the family members, friends, advocacy groups, and social network.

Dwarfism is mainly associated with certain genetic disorders such as achondroplasia, Turner syndrome, and growth hormone deficiency. In most cases, it results from a random genetic mutation.

In about 80% cases of achondroplasia, a person is born to parents of average height. He/she receives one normal copy of gene and one mutated copy of gene, related to the disorder.

Turner syndrome results from a random deletion of, or severe alteration of, all or part of an X chromosome, either in egg or sperm. A deficiency of growth hormone can also lead to dwarfism. It is likely to be associated with genetic mutation. Metabolic disorders, poor nutrition, and hormonal imbalance are other causes of dwarfism.

There are more than 200 various medical conditions associated with dwarfism. Therefore, its symptoms may vary according to the spectrum of disorders. Generally, dwarfism is categorized as disproportionate and proportionate.

In case of disproportionate dwarfism, the body size is not in proper proportion. Some body parts are small, while others are normal or above size. In proportionate dwarfism, on the other hand, the size of the body is smaller than average, but all body parts are small to the same degree.

Signs and symptoms of disproportionate dwarfism can be usually noticed at birth or they can be seen in early infancy. Symptoms of proportionate dwarfism may not be expressed or recognized at the time of birth.

Proportionate Dwarfism

This condition is due to certain congenital medical conditions and conditions during early childhood. It restricts overall development and growth. As a result, head, trunk and arms are small in size, but of average proportion.

Some disorders causing proportionate dwarfism can result in mental retardation. A deficiency of growth hormone is the most common cause of this type. Signs and symptoms of proportionate dwarfism due to growth hormone deficiency are:

• Slow growth before age 5
• Periods of little or no change in height
• Height below the fifth percentile on standard pediatric growth charts
• Delayed or no sexual development during adolescence
• Adult height usually less than 5 feet

Turner syndrome can also cause proportionate dwarfism. This disorder causes short stature and impaired sexual maturation in women. Signs and symptoms of this disorder are as follows:

• An adult of average height of 4 feet 8 inches
• Puffy hands and feet at birth and during infancy
• Excess skin at the neck at birth
• Kidney problems
• Defects of heart and blood vessels
• Infertility
• No onset of menstruation or no development of breasts during puberty
• Possible difficulty with intellectual tasks

Disproportionate Dwarfism

People with disproportionate dwarfism have an average size trunk and very short arms. However, some may have a very short trunk and small, but disproportionately large 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 disorder are:

• An adult with an average height of about 4 feet (122 cm)
• Crowded and misaligned teeth
• Short arms and legs, especially upper arms and thighs
• An average-size trunk

• Short fingers, there is a wide gap between the middle and ring fingers
• Protruding jaw
• Development of bowed legs over years
• Limited mobility at the elbows
• Development of swayed lower back over years
• Flattened nose bridge
• Large head, abnormally large forehead

Another disorder known as spondyloepiphyseal dysplasia congenita (SEDC) is also one of the most common causes of disproportionate dwarfism. Signs and symptoms of this disorder are:

• An adult of height ranging from 3 feet to just above 4 feet
• Cleft palate
• Slightly flattened cheekbones
• A very short trunk

• Average-size, weak hands and feet
• Short neck, arms, and legs
• Feet twisted or not in shape (clubfoot)
• Hip deformities, due to which thigh bones turn inwards (Coxa vara)
• Arthritis (difficulty in moving joints)

• Progressive development of lordosis (inward curvature of the lumbar and cervical regions of the spine)
• Progressive development of kyphoscoliosis, [a combination of outward curvature (kyphosis) and lateral curvature (scoliosis) of the spine]
• Vision and hearing problems

Dwarfism may result in a number of complications such as delay in motor skills development, frequent ear infections, hearing loss, crowded teeth, bowing of legs, sleep apnea, progressive severe hunching or swaying of back, arthritis, absence of sexual maturation, etc., and psychological problems.