What is Faciocutaneoskeletal Syndrome?
Faciocutaneoskeletal Syndrome which is also known by the name of Costello Syndrome is a very rare pathological condition affecting multiple organs of the body.
The primary features of this condition is growth delays after birth along with short stature as the child grows, and loose skin around the neck, palms of the hands, fingers, and soles of the feet.
Affected children with Faciocutaneoskeletal Syndrome also tend to have benign tumors around the face and the rectal. Intellectual disability is also one of the primary features of Faciocutaneoskeletal Syndrome.
Hyperextensible joints of the fingers are also something which is seen in individuals with Faciocutaneoskeletal Syndrome. Individuals with Faciocutaneoskeletal Syndrome also tend to have heart defects in the form of cardiomyopathy along with distinct facial features to include macrocephaly, abnormally thick lips, and wide nostrils.
Such individuals also are at greater risk for developing malignant tumors later on in their lives. This condition caused by mutation in the HRAS gene follows an autosomal dominant pattern of inheritance meaning that one copy of the faulty gene from either parent is enough for a child to develop Faciocutaneoskeletal Syndrome.
What are the Causes of Faciocutaneoskeletal Syndrome?
As stated, the primary cause for Faciocutaneoskeletal Syndrome is mutation in the HRAS gene and follows an autosomal dominant pattern of inheritance. The mutation of the HRAS gene causes overproduction of the HRAS protein which leads to abnormal and continuous cell growth and division leading to the characteristic features of Faciocutaneoskeletal Syndrome.
What are the Symptoms of Faciocutaneoskeletal Syndrome?
The main presenting feature of children with Faciocutaneoskeletal Syndrome is a poor ability to suck and swallowing difficulties. These children tend to grow fairly slowly when compared to normal children.
This delay in growth leads to them having a short stature as they grow into adulthood. Children with Faciocutaneoskeletal Syndrome also have delays in attaining their developmental milestones and also have intellectual disability to some degree.
Such children also take more time in gaining speaking skills and their ability to ambulate independently. Another primary feature of Faciocutaneoskeletal Syndrome is the presence of loose skin around the fingers, palms of the hands, and soles of the feet.
This is because of the lack of adequate elasticity of the skin due to Faciocutaneoskeletal Syndrome. There may also be wrinkling of the skin in these areas along with hyperpigmentation of the skin where the skin may appear darker when compared to the skin color in other areas of the body.
Hyperextensible joints are yet another primary feature of Faciocutaneoskeletal Syndrome. The joints of the fingers and wrist are the most affected with this condition resulting in ulnar deviation. Scoliosis and kyphosis is also seen in children with Faciocutaneoskeletal Syndrome as they grow.
Children with Faciocutaneoskeletal Syndrome also tend to have an abnormally large head, a condition called as macrocephaly, low set ears, and abnormally thick lips as a result of Faciocutaneoskeletal Syndrome.
There are also certain ocular abnormalities seen in children with Faciocutaneoskeletal Syndrome and include nystagmus and strabismus. Children with this condition also tend to develop heart defects in the form of hypertrophic cardiomyopathy as a result of Faciocutaneoskeletal Syndrome.
How is Faciocutaneoskeletal Syndrome Diagnosed?
The diagnosis of Faciocutaneoskeletal Syndrome can be made by a thorough clinical evaluation of the patient. The presenting features of the patient are good enough to point towards a diagnosis of Faciocutaneoskeletal Syndrome. Additionally, a genetic testing may be conducted which will clearly show a mutation in the HRAS gene confirming the diagnosis of Faciocutaneoskeletal Syndrome.
How is Faciocutaneoskeletal Syndrome Treated?
The treatment of Faciocutaneoskeletal Syndrome is basically symptomatic. It may require combined efforts by a team of specialists to include pediatricians, speech and language therapists, cardiologists, orthopedists, and dermatologists who can formulate a treatment plan best suited for the patient.
For treatment of the cardiac abnormalities namely hypertrophic cardiomyopathy, medications in the form of beta blockers may be prescribed which have been shown to be quite effective for patients with Faciocutaneoskeletal Syndrome.
Surgical intervention may be required to treat other abnormalities such as that of the skin and other skeletal abnormalities such as loose skin and curvature of the spine. Speech and occupational therapy are extremely beneficial for children with Faciocutaneoskeletal Syndrome who have speaking and swallowing difficulties as they can train them in speech and swallowing and make them as independent as possible.
It should be noted here that an early diagnosis of the condition with early intervention provides the best chances for a good outcome of treatment of children with Faciocutaneoskeletal Syndrome.