Autosomal dominant is one of several ways that a trait or disorder can be passed down

through families. If a disease is autosomal dominant, it means you only need to get the
abnormal gene from one parent in order for you to inherit the disease.
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed
down through families. An autosomal recessive disorder means two copies of an abnormal
gene must be present in order for the disease or trait to develop.
To have an autosomal recessive disorder, you inherit two mutated genes, one from each
parent. These disorders are usually passed on by two carriers. Their health is rarely affected,
but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for
the condition.
An X-linked gene is located on the X or Y chromosome and affects males and females
differently. This type of inheritance refers to the inheritance of a dominant gene mutation on an
autosome (one of the chromosomes numbered 1-22). See Figure 8.1. There are two copies of
every autosomal gene.
Skeletal dysplasias are a group of more than 300 disorders in which a child's bones do not
grow the way bones usually do. Often, children who have skeletal dysplasias are very short.
Dwarfism is a type of short stature that happens when the bones do not have the ability to grow
to an average length.

What is skeletal dysplasia?

Highlights
1,Skeletal dysplasia is a group of conditions that cause abnormal
bone development.
2,It can result in short stature, unusual limb proportions, and
other symptoms.
3,The treatment and outlook vary depending on the specific type
of skeletal dysplasia.

Dysplasia.
Skeletal dysplasia is the medical term for what many people refer
to as dwarfism. Its an umbrella term that includes hundreds of
conditions that can affect your childs bone and cartilage growth.
Types of skeletal dysplasia are generally classified by which parts
of the skeleton are involved.
If your child is born with skeletal dysplasia, they will have
abnormal differences in the size and shape of their legs, arms,
trunk, or skull. They may be very short in stature. They may also
have arms and legs that arent in normal proportion with the rest
of their body.
Skeletal dysplasia is a genetic condition. Its caused by a defect in
a specific gene, known as a genetic mutation. Each type of
skeletal dysplasia is relatively rare. But as a whole, skeletal
dysplasia affects close to one in every 5,000 births, report.
What are the symptoms of skeletal dysplasia?
Specific symptoms of skeletal dysplasia vary depending on the
disorder that your child has. Their arms, legs, trunk, or skull will
likely develop with an unusual shape, size, or both. Other
symptoms can include:

stubby fingers
duplication of fingers or toes
club feet
missing limbs
missing ribs
fractured bones

joint pain
scoliosis
developmental delays
cognitive impairments (previously known as mental
retardation)
What causes skeletal dysplasia?
Skeletal dysplasia is an inherited condition. It can be caused by
many different types of genetic mutations, which are passed
down from parents to children. These mutations can prevent your
childs bones from growing normally. While skeletal dysplasia runs
in families, you can potentially pass the condition to your child
even if you dont have a known family history of it.
The exact genetic defect responsible for your childs skeletal
dysplasia may be difficult to pinpoint. The most common type of
skeletal dysplasia is called achondroplasia. Its caused by
mutations of your childs FGFR3 gene. Most of the time, parents of
children born with achondroplasia have normal height and
stature.
Other common types of skeletal dysplasia include:

thanatophoric dysplasia, a condition that causes your

child to develop extremely short limbs, extra folds of skin on their

arms and legs, and underdeveloped lungs

hypochondroplasia, a condition that affects the conversion

of cartilage into bone in your childs body and results in short
arms and legs, as well as hands and feet that are short and broad

campomelic dysplasia, an often fatal condition in

newborns that causes dangerous bowing of the long bones in your
childs legs and often their arms as well

osteogenesis imperfecta, a disorder that results in fragile

bones that break easily

achondrogenesis, a disorder that causes your child to

develop short limbs and a small body
How is skeletal dysplasia diagnosed?
If your child has skeletal dysplasia, they may be born with a short
stature. In other cases, they may be born with a normal stature
and fail to grow later on. You or your childs doctor might discover
their condition if your childs head grows out of proportion to the
rest of their body.
To diagnose skeletal dysplasia, your childs doctor may first
conduct a physical examination. They will likely measure your
childs height, weight, and head circumference. They will probably
measure the lower and upper segments of your childs body
separately to assess their proportions. They may also ask you
questions about your child and familys medical history.
An inherited condition
Skeletal dysplasia is caused by genetic mutations that impact
bone growth and development. The genes responsible are passed
from parents to their children. Skeletal dysplasia can be passed to
a child even if there is no known history of the condition running
in the family.
Your doctor may use X-rays, magnetic resonance imaging (MRI)
scans, or computed tomography (CT) scans to help identify and
assess deformities in your childs bones. In some cases, they may
even diagnose skeletal dysplasia before your child is born, using
an ultrasound examination. Your doctor will likely conduct a
routine ultrasound during your pregnancy or your partners

pregnancy. During the exam, they may notice abnormalities in

your developing childs bone structure or limb lengths. They may
order a more detailed follow-up ultrasound to help diagnose their
condition. The exact type of dysplasia may be difficult to diagnose
until after your child is born.
Your childs doctor may also recommend genetic and molecular
analysis to help identify the type of skeletal dysplasia that your
child has. This can help them identify the exact genetic mutation
thats causing their condition.

How is skeletal dysplasia treated?

Your childs doctor may work with a team of specialists to develop
and deliver a treatment plan. For example, these specialists may
include neurosurgeons, neurologists, orthopedists,
ophthalmologists, endocrinologists, radiologists, geneticists,
physical therapists, occupational therapists, and others.
Your childs doctor may prescribe growth hormones to help boost
their growth. This type of treatment involves injections with
needles every day. It may help increase your childs height, but
they will probably still develop below-average stature, even with
treatment.
Their doctor may also recommend surgery. For example, if your
childs bones are constricting their spinal cord or brain stem, a
pediatric neurosurgeon may need to remove some bones. Surgery
may also be used to help lengthen your childs limbs and induce
bone growth. But there are many possible complications involved

in this type of surgery. It may involve multiple procedures and a

long recovery period.
Your childs doctor may also recommend other treatments and
rehabilitative therapies to help relieve their symptoms, increase
their independence, and improve their quality of life.

What can be expected in the long-term?

The long-term outlook for your child will depend on the type of
dysplasia they have. According to the Childrens Hospital of
Philadelphia, about half of fetuses with skeletal dysplasia are
stillborn or die shortly after birth. Some children with the
condition survive into childhood. Others survive into adulthood.
Many of them live relatively normal lives.
Ask your doctor for more information about your childs specific
condition, treatment options, and long-term outlook.