ACHONDROPLASIA

Jennie Patricia Mayaute Allca

ACHONDROPLASIA FACTS
It is a genetic disorder of bone growth

It is the most common cause of short stature

Intelligence is normal in people with achondroplasia Complications of achondroplasia can affect the brain and the spinal cord
Achondroplasia can be diagnosed before birth

ACHONDROPLASIA

It is a disorder of bone growth that causes the most common type of dwarfism.

It is a condition that is characterized by short stature

CAUSES

Achondroplasia may be inherited as an autosomal dominant trait.

If a child gets the defective gene from one parent, the child will have the disorder.

One parent: the infant has a 50% chance

Both parents: the infant has a 75% chance

HOW IS IT INHERITED?
Only a single copy of the abnormal gene is required to cause achondroplasia.

Most cases of achondroplasia occur sporadically

These are the result of a new mutation in a sperm or ovum

The chance of a new mutation rises with the age of the father

CHARACTERISTICS
The baby with achondroplasia has a relatively long, narrow torso with short extremities There is a typically large head with prominence of the forehead, underdevelopment of the midface

CHARACTERISTICS
The baby's fingers appear short and the ringer and middle fingers may diverge, giving the hand a trident appearance

With walking, the hump goes away and a pronounced sway (lordosis) of the lumbar region (the lower back) becomes apparent.

CHARACTERISTICS
The baby exhibits some decrease in muscle tone (hypotonia). Intelligence is generally normal in patients with achondroplasia.

SYMPTOMS
Abnormal hand appearance with Decreased muscle tone

Bowed legs

Spine curvatures called (kyphosis and lordosis)

Prominent forehead (frontal bossing)

Short stature (significantly below the average height)

Disproportionately large head-to-body size difference

Shortened arms and legs

Spinal stenosis

DIAGNOSIS
It is diagnosed by characteristic clinical, ultrasound and X-ray findings

Genetic testing can be used to identify a mutation in the FGFR3 gene

Genetic testing can identify mutations in 99 % of individuals affected

It is available in clinical laboratories.

MOLECULAR DIAGNOSIS

The molecular diagnosis of achondroplasia before birth is possible if there is suspicion of the diagnosis or an increased risk.

In families in which both parents have achondroplasia, prenatal diagnosis may be particularly useful

ACCOMPLISHED BY: Cells obtained by chorionic villus sampling (CVS) Amniocentesis.

HOW COMMON IS ACHONDROPLASIA?

Achondroplasia is the most common type of shortlimbed dwarfism.

The frequency is 1 in 10,000 births in Latin America. About 12 in 77,000 in Denmark.

An average figure worldwide is approximately 1 in 25,000 births..

GENES RELATED TO ACHONDROPLASIA

Mutations in the FGFR3 gene cause achondroplasia.

Provides instructions for making a protein that is involved

in the development and maintenance of bone and brain tissue

GENES RELATED TO ACHONDROPLASIA

Mutations in FGFR3 gene
causes

FGFR3 protein to be overly active

which

Cases of achondroplasia

Interferes with skeletal development

and

Leads to the disturbances in bone growth

TREATMENT
NO SPECIFIC TREATMENT IS AVAILABLE FOR ACHONDROPLASIA

Children born with achondroplasia need to have their:

Height Weight Head circumference

Monitored

POSSIBLE TREATMENTS

MRI For evaluation of severe muscle weakness Signs of spinal cord compression.

Breathing Use of a nasal mask Surgical opening in the airway (tracheostomy)

POSSIBLE TREATMENTS
Medication Treatment with human growth hormone has been used to increase bone growth rate At least in the first year of life.
A young age at initiation of therapy (1-6 y) is recommended for maximum benefits.

POSSIBLE TREATMENTS
Spinal fusion: surgery to permanently connect otherwise separate vertebrae

Surgery It is needed to correct specific skeletal deformities.

Laminectomy: surgery to open the spinal canal to relieve pressure

Osteotomy: the bones of the leg are cut and allowed to heal in the correct anatomical position