Problems and Complications

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For a long time, dwarfism was considered to be a disease in itself. Because of this, many adult little people were unaware of, or discovered late in life, that their short stature was due to dwarfism. It is thus understandable that many do not make the connection between the cause for their dwarfism and its associated symptoms.

Now we know that in addition to underdevelopment, a symptom common to all dwarfism types, the possible complications related to short stature are numerous and vary according to the causes of dwarfism. The list is long, but it unlikely someone would be affected by these problems all at once.

Spinal Stenosis

Many people with achondroplasia have spinal stenosis (spinal cord compression) and will require surgery, or a laminectomy, at some point in their lives. Each vertebra has a hole in the centre forming the vertebral canal, which the spinal cord passes through. In people with achondroplasia, however, the vertebral canal is smaller than average. This narrowing can compress the spinal cord and can lead to serious neurological complications.

It is important to learn to recognize several symptoms of spinal stenosis: urinary incontinence, exaggerated tendon reflexes, shaking, numbness or tingling in the legs, limping, and muscular weakness. These problems generally occur at the end of adolescence. If spinal stenosis is not treated, it can lead to progressive paralysis and bladder control problems.

Ear Infections and Hearing Loss

The ear is made up of three parts: the inner, middle and outer ear. The middle ear, containing the ossicles and the Eustachian tube, is often smaller and slightly deformed in children with dwarfism. These children are more prone to bacterial infections of the ear, which often block the Eustachian tube and cause ear infections. In people with achondroplasia, inflammations of the ear or unwanted fluid behind the ear drum, whether infected or not, are more frequent and sometimes reoccurring. The insertion of tubes is often required so as to prevent hearing loss. Regular visits with ear, nose, and throat specialists are important.


An excess of cerebrospinal fluid (CSF) in the brain is called hydrocephalus. Over the course of time, or if left untreated, the cerebral ventricles will be compressed against the skull and begin to deteriorate. Treatment consists of placing a plastic tube, or ventricular shunt, in the cerebral ventricles to bypass the flow of CSF.

In children with dwarfism, hydrocephalus is caused by an increase in pressure in the superficial veins of the brain, which slows the reabsorption of CSF into the blood system. When the head increases in size, the pressure drops in the superficial veins and circulation starts again. Inserting a ventricular shunt is therefore only necessary for 3 % of children who have hydrocephalus associated with dwarfism.

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Joint Pain and Osteoarthritis

Certain kinds of dwarfism can leave limbs very deformed. Often, two parts of the same limb (example leg and thigh) are misaligned, prematurely wearing out articular cartilage and ligaments in the knees and ankles. Such malformed limbs can be painful and can make walking difficult.

Cleft Palate and Malformation of the Teeth and Jaw

The teeth of children with certain kinds of dwarfism, such as Seckel syndrome, may grow in abnormal places. The upper jaw of children with Turner or Seckel syndrome, develops more slowly than the lower jaw. The lower jaw, usually unaffected, sometimes moves forwards.

With Kniest Syndrome or diastrophic dysplasia, a cleft palate (almost complete absence of the palate and related to a cleft lip) can also affect the upper jaw. This disfigurement can be corrected surgically.

Breathing Problems

Sleep apnea consists of very short respiratory pauses during sleep. Found primarily in babies with achondroplasia, sleep apnea is common during the baby’s first year. It is caused by a foramen magnum stenosis: When the opening at the base of the skull through which the spinal cord passes (the foramen magnum) is too small, the nerve fibers controlling respiratory function and heart rate are compressed.

Because sleep apnea deprives the brain of oxygen, the possibility of spinal nerve compression at the base of the skull must be detected during the first days of an achondroplastic baby’s life. If there is a stenosis, surgery can be performed at 4 to 6 months.

Hypotonia and Slow Child Motor Development

Hypotonia, caused by an excessively large head and cervical stenosis (see above) is very common among children with dwarfism under the age of two, in particular those with achondroplasia or pseudoachondroplasia. Limp and feeble, the baby is slow to develop motor skills such as lifting the head, sitting, standing, and walking. Although the baby will eventually acquire these motor skills, he will usually be behind the average child by 6 – 12 months.

Lordosis and Kyphosis

The vertebral column has two natural curves: one in the lower back (lordosis) and one in the upper back (kyphosis). When exaggerated in certain people, these curves are called hyper-lordosis and hyper-kyphosis.

A side effect of muscular hypotonia, hyper-kyphosis in children with dwarfism appears during the first weeks of birth, but often diminishes after the child starts standing on their own and walking. Lordosis in children with achondroplasia, however, gets worse when the child starts to stand.

Neuropsychological Problems

Although problems related to neuropsychological capacities are not specific to little people, there are certain problems they suffer from more frequently. Little people sometimes but rarely have difficulty with math and other tasks that require problem solving; they can lose some of their visuospatial awareness (difficulty describing a drawing or identifying visual reference points when in a new place) and are sometimes slower to develop language skills if they were not followed by ear, nose, and throat specialists. These losses vary depending on the kind of dwarfism, but cognitive capacity is generally intact.

This information was taken and adapted from Nathalie Boëls' book: Le nanisme: Se faire une place au soleil dans un monde de grands, Ed., CHU Ste-Justine, 2008.

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© 2011 AQPPT - Translated by George Bravo and Judy Murphy