Frequently Asked Questions

Which is the link between the syndrome and cats?

None! Honestly, the researchers Schimd e Fraccaro named the Cat Eyes Syndrome in assonance with Cri-du-Chat Syndrome sinceĀ iris coloboma reminded to cat's eye pupil.
But, to honour the strenght and the bravery of these little fighters to face any challenge the life will put throught, we are happy to think that they have in common with cats values like resolution, independency and mostly... 7 lifes.

What I have to expect if my newborn has CES?

Due to the extreme variability of symptoms, unfortunately there is not a general framework that can identify the starting medical situation of each CES affected person.
But for sure we can start from the fact that Cat Eye Syndrome is not a degenerative congetinal syndrome so any medical problem discovered at birth time will have its normal course according with the pathology diagnosed.
Then, there is another fact we can add: CES affect single gills/branchias of the body.

What does it mean?
We can give some examples: in case your son is diagnosed with a major cardiac defect which has been fixed in the first months of life, the risks of death are related only with the cardiac surgery and possible complications. So if surgery will be succesfull, you can almost forget of the heart disease.
On the other hand, in case of any issue related with anus your son could experience some complications with gut (such as malrotation, constipation, etc) even if the surgery fixing the anal atresia will be succesfull.
As well as some renal issues come together with vescicular/uretral reflux and may increase susceptibility to infections of urinary track.
Anyway, any single case is different from the others.
Generally speaking we can state that CES people can experience a stronger predisposition to infections - minor and major ones - in the different body area they are affected the more.

I read about CES people without symptoms, is it possible?

Yes.
There are many cases of asymptomatic CES people that found out to have it only after they give birth to children with several malformations.

I am expecting a baby with CES and I wish to abort, is it wrong?

We are a secular association, so we can say you are right and wrong. But for sure we can tell all the good and - alas - also the bad our children brought in our lifes.

However, the key question you should ask yourself is: Am I prepared to love the human being, which is growing inside me, in the exact way s/he will be and not for the expectations I have about her/him?

That's the only question you should ask yourself.
Besides, if you need any help, do not hesitate to ask.
That's the reason we are here and do not forget: you are not alone.

How many CES cases are present in the world?

None knows it exactly since, due to the extreme variability of the syndrome there are many persons affected which ignore to have it. However the incidence of the disease is in the region1:50,000 e 1:150,000 in the world.

I know exactly how many MB are duplicated in the tetrasomy/trisomy of my child, can I guess which symptoms s/he will have?

No, Unfortunately Not.
There are not scientific evidences of correlations between genetic duplicate material and relative malformations.
Your child could be from normal to incompatible with the life.
Only a third level ultrasound echografy may give you accurate answers, however bear in mind that some congenital abnormalities, about hearing and sight or cardiac malformations such as Total Anomalous Pulmonary Venous ReturN, can not be detacted before birth.

Is there any relation between CES and mental retardation?

There is not genetic correlation so the mental development of CES people may vary in a range from normal to mild retardation, with some cases of major mental retardation.
In general, the worst cases are those ones of persons affected with multiple malformations which had several surgeries and long hospitalizations which can be consider the cause of the mental retardation more than the same syndrome.

Which are the most recurrent symptoms?

Unfortunately, there is not an official statistic estimation about that yet but according with the debate on Facebook group we can franckly state that eye defect like coloboma is not among these symptoms. Top of the list you can find, periauricular tip or fistula and Total Abnormal Pulmunary Venous Return (TAPVR).

We are still collecting datas from the group members, so far you can find this list of the most recurrent symptoms in alphabetic order. NB: Among these symptoms are listed also other recurrent issues which may not be strictly related with malformation at birth.

  • Airway malformations
  • Behavior issues
  • Biliary Atresia
  • Chronic constapation
  • Chronic fatigue
  • Chronic lung disease
  • Cleft palate
  • Coloboma
  • Cortisol deficiency
  • Cryptorchidism
  • Damaged lungs
  • Deformed ears
  • Dental issues
  • Developmental delay
  • Downslanting palpebral fissures
  • Duane syndrome
  • Ear pit
  • Ear tag
  • Epicanthan Folds
  • Extra digit
  • Failure to thrive
  • Feed failure
  • GERD
  • Growth hormone deficiency
  • Hashimoto
  • Hearing loss
  • Hypermobility
  • Hypertelorism
  • Hypospadia
  • Imperforate anus
  • Interatrial defect
  • Insomnia
  • Kidney Hyperplasia
  • Laryngomalacia
  • Liver Transplant
  • Low muscolar tone
  • Malformation of the intestines
  • Malrotation of the gut
  • Maxillofacial malformation
  • Micrognathism
  • Microphthalmia
  • Minor skeletal defects
  • Multicystic dysplastic kidney
  • Other heart defects
  • Other kidney defects
  • Patent ductus arteriosus
  • Pituitary gland malformation
  • Polyspleenia
  • Sacral Dimple
  • Scoliosis
  • Short Stature
  • TAPVR
  • Tethered spinal cord
  • Tetralogy of Fallot
  • Tracheomalacia
  • Tricuspid atresia
  • Umbilica hernia
  • Vesicoureteral (kidney) reflux
  • Vocal cord paralysis
  • VSD Heart Defect

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