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.
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.
Infections and Hearing Loss
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
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
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.
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.
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
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.
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
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
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.
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.
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.