What are the Symptoms of Dwarfism?

Mary McMahon

Over 200 medical conditions are associated with dwarfism, a condition in which someone grows up with a smaller than average size. Because the causes are so varied, the symptoms of dwarfism are incredibly broad. Dwarfism is usually recognized early in childhood as a result of deviation from expected developmental targets. Depending on the type of dwarfism that a patient has, the patient may require special medical treatment to address complications of dwarfism, and the symptoms of dwarfism can sometimes cause serious complications for the patient.

When the symptoms of dwarfism are identified, a doctor may recommend testing to determine the cause of the dwarfism.
When the symptoms of dwarfism are identified, a doctor may recommend testing to determine the cause of the dwarfism.

The hallmark feature of dwarfism is a reduced stature. Dwarfism is usually identified when a child fails to develop at the expected pace, being smaller than other children of the same age. The symptoms of dwarfism can include irregular growth in the case of disproportionate dwarfism, in which the patient may have an unusually enlarged head, a normally sized torso, or very short limbs. In proportionate dwarfism, which is more rare, the patient develops proportionally, but remains small.

Achondroplasia causes disproportionate dwarfism.
Achondroplasia causes disproportionate dwarfism.

Some types of dwarfism are: Jeune syndrome, Seckel syndrome, primordial dwarfism, pituitary dwarfism, pseudoachondroplasia, hypochondroplasia, spondylo-epiphyseal dysplasia, achondroplasia, and diastrophic dysplasia. Patients can experience complications of dwarfism such as muscle and joint weakness, especially in the hands, along with respiratory problems, abnormalities in spinal development, enlarged feet and hands, and a bowlegged walk. Facial abnormalities such as crowded teeth and a very pronounced forehead are also seen in some forms of dwarfism. These symptoms of dwarfism do not appear in all patients with this condition, and their severity can vary.

Dwarfism may be detected when a fetus fails to develop at a normal rate and appears abnormally small.
Dwarfism may be detected when a fetus fails to develop at a normal rate and appears abnormally small.

When the symptoms of dwarfism are identified, a doctor may recommend testing to determine the cause of the dwarfism. Knowing what kind of dwarfism a patient has can be important because it may influence the treatment plan for the patient and provide information about what to expect later in life. In the case of inherited conditions, genetic counseling may be recommended so that parents have complete information about the dwarfism in their family and the ways in which it can be addressed.

Blood tests may be used to diagnose dwarfism.
Blood tests may be used to diagnose dwarfism.

Some forms of dwarfism can be treated with medications, such as growth hormone, although not all people with dwarfism choose to pursue treatment. Other types of treatment are focused on including quality of life or addressing complications, such as orthodontia to correct crowded teeth or surgery to address damaged joints. People with dwarfism can also benefit from accommodations such as driving blocks which allow them to operate cars.

Diastrophic dysplasia may be diagnosed during a woman's pregnancy.
Diastrophic dysplasia may be diagnosed during a woman's pregnancy.
Complications of dwarfism may include spinal abnormalities.
Complications of dwarfism may include spinal abnormalities.

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Discussion Comments

anon89319

This thing is long to read but anyway I'm doing a science project on genetically transmitted diseases and I needed symptoms on dwarfism and this came up.

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