Crouzon Syndrome

Crouzon Syndrome is rare disorder affecting approximately 16 million individuals (or roughly 5.88% of the population) in the U.S. Read and find out all about the causes, symptoms, diagnosis and treatment of this disorder.

Crouzon Syndrome Definition

It is a hereditary disease characterized by anatomical abnormalities on the skull of a child upon birth. The name Crouzon’s Syndrome or Crouzon Syndrome, as others may use, was discovered by a French surgeon of the same name. His findings were published in 1912 and reported a case involving a mother and a child, both of whom were suffering from the same condition.

Crouzon Syndrome Symptoms

Some of the most common symptoms observed in children suffering from Crouzon Syndrome are:

Picture of Crouzon Syndrome

Picture 1 – Crouzon Syndrome

Premature Fusion of the Sutures

This is considered to be one of the most dangerous problems exhibited by suffering infants. Premature fusion of the sutures makes it difficult for the brain to grow. This makes surgery absolutely necessary for patients. Unfortunately, it is very difficult to perform surgery in children. Due to this, parents need to wait a while before surgeons can proceed with this type of operation.

Modern medical technology has made it possible for infants to have a relatively normal skull shape along with a full bone coverage even if after the surgery. To ensure higher chances of success, parents need to seek the assistance of an experienced surgeon who is capable of performing these types of operation.

Sphenoid Bone

Flattened temples are another noticeable feature observed in patients with this syndrome. This is also one of the major criteria necessary to be checked before an individual can be diagnosed with Crouzon’s Syndrome. A debilitating cranial symptom, flattened temples can easily be noticed. Unfortunately, it is one aspect that is impossible to be corrected by surgery.

Exophthalmos

Suffering children also exhibit protruding eyes, which is another obvious feature of this syndrome. Just like the sphenoid bone feature, this is impossible to be corrected by surgery. However, its severity can be reduced through various medical procedures. Due to this aspect, it is quite difficult for suffering children to have a normal life with their friends. They may easily be teased during their younger years, but with strong family support these children can learn to cope up with their condition.

Nasal Passages

The nasal passage of affected children does not grow out as far as in normal people. It is smaller and is slightly inclined further towards the back of the face. It is combined with an unusually large lower jaw that causes the lower teeth to be misaligned with the upper teeth. Due to this anatomical disorder, individuals find it difficult to breath because of the reduced airflow towards the nose. A lengthy and complicated procedure to help pull out the midface can be performed, but it is a risk parents and children has to take. Aside from this, the expense may not be too inviting on the pocket.

Large Jaw

The large jaw, as mentioned earlier, makes the midface hypoplasia appear even worse that it already is. As a result, the lower teeth further goes out of alignment with the upper teeth. Fortunately, this is one of the problems that can be corrected through surgery.

Auditory Canals

Individuals with this disorder are most likely to suffer from hearing loss because of the many structural abnormalities in the craniofacial aspect of the skull. This results to damaged auditory canals. Moreover, patients are also most likely to become sufferers of sleep apnea.

Vertebral Malformations

Curvature of the spine, along with ankylosis of the elbow joints and digital fusion, is also seen as another prominent characteristic of this condition.

Other reported abnormalities include eye disorders, mitral valve disorders, valve blockages, and respiratory dysfunctions. At present, medical specialists are constantly conducting researches to find methods that can help understand this condition. They are also trying their best to find alternative solutions to relieve patients of discomfort and psychological stress.

Crouzon Syndrome Causes

The condition is said to be associated with genetics. There are many clinical reports which suggest that if a parent suffers from Crouzon Syndrome then the child has 50% of chances of suffering from the same condition. Moreover, those who will inherit the condition are most likely to suffer from a new mutation that was not present in their parent. However, those who do not have a history of this syndrome are not free from this condition either.

Researchers are still trying to find out the gene that is responsible for the occurrence of this condition. Most recent studies show the chemical gene fibroblast growth factor receptor 2 or FGFR2 as the main cause of this disorder. FGFR2 is responsible for the formation of skin, connective tissues and bones that affects patients with this ailment.

Crouzon Syndrome Treatment

Surgery is regarded as the only possible treatment for those born with the disease. Some of the primary surgical options for curing this disorder include:

Image of Crouzon Syndrome

Picture 2 – Crouzon Syndrome Image

Premature Fusion

As mentioned earlier, this is one of the major concerns of doctors upon positively diagnosing a child with Crouzon syndrome. This has to be done for the reason that it will help prevent potential brain damage.

The procedure requires both the removal and replacement of the cranial vault in order to relieve pressure on the brain. Partial craniectomy may also be done wherein part of the skull may be stripped and replaced. However, there are rare instances wherein the entire skull has to be removed and fragmented before it is put back in place. The shape of the skull is retained through external molds with the aid of lateral canthal advancement.

Exophthalmos

Two types of surgeries may be done to resolve this condition: orbital surgeries and non-orbital surgeries. The latter is done with minimal interference focusing on the bone surrounding the eye socket. This is done by grafting a bone near the browline or probably the cheekbone that does not involve surgery near the orbits proper. Orbital surgery would involve placing the eyes further back into the orbit or ultimately changing its position.

Large Jaw Surgery

This is probably one of the easiest things that need to be resolved. The surgical procedures may even be invisible to the eyes through the scar-less Lower Jaw reduction procedure. This is done by creating an incision that is performed from the inside of the mouth. After which, it is held together by the use of wires while waiting for the bone to entirely heal.

Surgical operations for this ailment should not be handled by any ordinary doctor. Only an experienced craniofacial team should be in-charge of the operation. This is because someone inexperienced with this medical procedure can face bone irregularities, infection, and collection of blood. The consequence of a recorrective surgery may be even worse.

 

It may be a shock to discover your child to be suffering from this syndrome. Nonetheless, pamper your baby with attention to make it feel protected and cared for. Managing this condition can be stressful for you. Join a group or consult a counselor for support. Read and educate yourself with the latest techniques in handling a child with this ailment.

References:

http://ghr.nlm.nih.gov/condition/crouzon-syndrome

http://www.bbc.co.uk/health/physical_health/conditions/crouzon2.shtml

http://www.seattlechildrens.org/medical-conditions/bone-joint-muscle-conditions/crouzon/

http://www.cleftline.org/what-we-do/publications/fact-sheets/crouzon-syndrome/

 

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