Causes of Coffin Lowry Syndrome
Coffin Lowry Syndrome is a disease that is involved with the mutation of RPS6KA3 gene that is responsible in making proteins in the body. This condition is being inherited by children for their X-linked leading configuration nevertheless some studies also warranty that almost 60% of people with the syndrome do not have any kind of family history. The disorder is mainly caused if the X-linked is tormented in the X-chromosome. Due to this reason alone, the gender that is ordinarily being affected is males that consist of the X-chromosome on almost all their cells.
Symptoms of Coffin Lowry Syndrome
The clinical features associated with Coffin Lowry Syndrome usually consist of a long list. This includes:
- A small stature is usually concomitant with the syndrome that is due to the condition called kyphoscoliosis.
- They also appear to have a wide-ranging forehead that people mistake as another health condition but are actually not. Apart from that, the fontanelle’s that are usually expected to close early in an infant is constantly being delayed in cases of individuals with Coffin Lowry Syndrome.
- The bridge of their noses seems flattened.
- Jaws of children that have the syndrome are bulging.
- The look of the mouth appears to be full, and the lips are measured to seem pouty.
- An appearance of the limb is commonly evident because they look narrowed and drooping at the same time.
Most of these features occur more naturally in men rather than women but both gender will normally be afflicted by the wavering symptoms and will worsen as they age. They will also experience coming up with other debilities such as becoming intellectually impaired. Most boys and girls usually progress into becoming familiar with their knowledge for speech behind compared to the others that of their age.
Treatment of Coffin Lowry Syndrome
Even with the varying clinical features that most individuals manifest due to the syndrome, there is still no conveyed remedy to treat it. With the frailties that individuals who have Coffin Lowry Syndrome show, it is highly prudent to ensure that these incapacities be taken care of. This can only happen with the proper consultation of well-respected individuals known with their specialties. Here are some tests that can be accomplished inside a health facility:
- Ultrasonography – when it comes to the detection of aberrations of the heart, one of the finest analyses is ultrasonography. In order to validate how severe the condition of the heart already is, scanning it through the mere use of an ultrasound should be done regularly. After the assessment, proper medication and a suitable conduct of dealing should be prompt thereafter.
- Growth Monitoring – since most group of individuals that experiences Coffin Lowry Syndrome have a pronounced difficulty when it comes to their growth, development and mass, it is imperative to turn to health experts such as a nutritionist. This can help with coming up with some foods that may be of assistance on how a child can remain healthy and within normal body weight even if the said disease is present.
- X-ray Examinations – one aspect of the genetic disease is that distortions from the skeletal features are usually very common. X-ray checkups can provide early inhibition of worsening the condition while early management can include undergoing surgery from stopping the sternness of spinal disfigurements.
Other form of treatments includes:
- Rehabilitation – support is an essential thing that should be offered not only to the people who are suffering from Coffin Lowry Syndrome but it should also be advised to the whole family since they are also experiencing misery. The rehabilitation consists of much assistance not only from the medical care specialists but also from diverse categories of field. These groups of support can steadily and hastily express how to adapt the needs of any child with the illness.
- Medication – the power of medication should not be neglected during the period of facing Coffin Lowry Syndrome. Prescriptions that include treatment for the condition epilepsy might be called for as well as pills that are classified as Selective Serotonin Re-Uptake Inhibitors.
- Therapists – children with the syndrome most often than not agonize from not being able to cope up with their development. This includes problems when it comes to skills in communicating with other people, being able to muddle through the use of languages, as well as forming sentences and speeches. Therefore, a speech and language specialist is obligatory.
Prognosis of Coffin Lowry Syndrome
It is vital to get every individual that is suspected from the disease to get an early involvement with the health professionals. This is the only approach for those Coffin Lowry Syndrome individuals be able to guarantee that they can increase the period of their lifetime. The prospect of people who can gain recovery from Coffin Lowry Syndrome depends on how brutal the symptoms are.