CAMPOMELIC DYSPLASIA

Campomelic dysplasia is a severe disorder marked by the development of abnormal curvature of the long bones and many other skeletal and extraskeletal features.

The development of these skeletal abnormalities may begin before births and can often be seen on ultrasounds
Affected babies are typically born with bowing of the long bones in the legs and often born with bowing in the arms.
The condition is frequently very life-threatening in the newborn period because of respiratory insufficiency, but the severity varies and some babies survive into adulthood.
People who survive childhood may develop an abnormal curvature of the spine and other spine abnormalities such as anomalies of the neck which compress the spinal cord as they age.
When affected babies have features of this disorder not marked with bowed limbs, they are said to have acampomelic campomelic dsyplasia.
It is thought that one in ever 40,000 t0 80,000 babies are born with the campomelic dysplasia.

CAUSES

Campomelic disorder is a genetic disorder that is caused by mutation change in one copy of the SOX9 gene and is inherited in an autosomal dominant pattern.

The SOX9 gene plays an important role in determining sexual characteristics and greatly influences skeletal development.

Each of us inherits our gene from our parents. These genes provide our body with instructions that influence our health, looks, and behavior. Each person inherits two copies of every gene, one from the father and one form the mother

An autosomal trait is one of the several ways that a trait disorder can be passed down through families

In an autosomal dominant disorder, the abnormal gene when inherited from only one parent can cause a particular individual to get the disorder or disease.

Since the campomelic disorder is autosomal, only one copy of the S0X9 gene needs to have a mutation for a person to have the disorder. The other copy works normally but is not sufficient to prevent a person form having the disorder

People with the disorder have a 50% chance of passing this condition down to their children.

SYMPTOMS

Head bigger than the body size
Dislocated hips
11 pairs of rib instead of 12
Underdeveloped shoulder blade
Ambiguous genitalia – external genitalia that does not look clearly male or female
Hearing loss
Distinctive facial features including small chin, prominent eyes, and a flat face
Pierre-Robin sequence. This is a group of physical features characterized by an opening in the roof of the mouth, a tongue that is placed further than normal and a smaller jaw
Laryngotracheomalacia – is a condition in which the larynx and trachea are weakened leading to airway obstruction and difficulty breathing.
Feet that are abnormally rotated

DIAGNOSIS AND TREATMENT

In case of high-risk pregnancies where the parents have another child diagnosed with the disorder or one of the parents has the disorder, the fetus can be diagnosed before birth by testing DNA taking from the fetus.

The disorder can also be diagnosed by ultrasound in pregnancy

TREATMENT

Attentive and informed care from parents and health-care providers can help children with the disorder lead fulfilling lives. The goal of treatments may be to help children adapt socially and physically and treat any complications.

Respiratory problems may be treated with mechanical or physical breathing assistance and surgery may help alleviate some of the bone abnormalities

CAMPOMELIC DYSPLASIA