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Downwardly slanted eyes, widely spaced eyes, skin folds that may cover the inner corners of the eyes, a small lower jaw, and a flat nasal bridge are all facial abnormalities that may come with this mutation.

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Skin Folds Covering The Inner Corners Of The Eyes

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Skin Folds Covering The Inner Corners Of The Eyes

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GARD
Phone:1-888-205-2311
Their phone line is open From Monday to Friday 12 pm to 6 pm eastern time.
https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome

NORD
(The below information is the contact information NORD had on their article)
"National Headquarters, CT Office

55 Kenosia Avenue
Danbury, CT 06810
Phone: 203-744-0100
Fax: 203-263-9938

Washington, DC Office

1779 Massachusetts Avenue
Suite 500
Washington, DC 20036
Phone: 202-588-5700
Fax: 202-588-5701

Massachusetts Office

1900 Crown Colony Drive, Suite 310
Quincy, MA 02169
Phone: 617-249-7300
Fax: 617-249-7301

Communication Center Hours

Patients can contact NORD’s Patient Services Representatives at 1-800-999-6673 during the following hours: Monday-Thursday 8:30 am – 7:00 pm EST

Friday 8:30 am – 6:00 pm EST"

https://rarediseases.org/rare-diseases/cat-eye-syndrome/

WebMD
There wasn't any contact information on their website but their is a way to subscribe to their articles.
https://www.webmd.com/parenting/baby/cat-eye-syndrome-facts

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Depending on the symptoms you have, some treatments for them could prolong life but for most people with cat eye syndrome a short lifespan isn't an issue, they typically will have the same lifespan as anyone else.

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There is no specific ethnicity or population that has Cat eye syndrome, it is said that it affects the general population. About one in every 50,000 to one in every 150,000 is effected.

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Quite a few people with this mutation have reported short stature and it has been proven that cat eye syndrome can reduce the amount of growth hormone in a persons system.

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Cleft palate is caused by the top of the mouth not closing all the way leaving an open portion on the lip. Cleft palates are evident at birth and can usally be fixed.

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There are many abdominal defects that come with this mutation, Umbilical Hernia (when the intestines go through a defect in the abdominal wall), Inguinal Hernia (when the intestines go through the lower muscular parts of the abdominal wall), Meckel Diverticulum (abnormal sack like protrusion from the lower small intestine), Hirschsprung disease (the absence of groups of nerves or incomplete rotation of the upper large intestine), and there may also be loss of appetite.

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Scoliosis (curving of the spine), Vertebral Fusions (fusion of bones in the spine), Radial Asplsia (absence of the bone on the thumb, on the side of the forearm), Synotosis (absense of certain ribs), Hallux (absense of toes or the addition of a large toe), and dislocation of the hips.

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Addition of a large toe

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Missing toes

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Some individuals have minor intellectual disabilities, but very few actually have major intellectual disabilities. The individuals with intellectual disabilities may experience delays getting to developmental milestones, (psychomotor delays) which is just milestone  that take the coordination of muscular and mental capabilities.

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Underdevelopment and Unilateral or Bilateral Renal Hypoplasia (absense of a kidney or an extra kidney), Supernumerary Kidney (swelling of the kidney and or collection of urine in the kidney), Hydronephrosis (abnormal development of renal cyst). There are also issues with reproductive organs in both male and female namely unerdevelopment.

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It is guessed that around half of the individuals affected with cat eye syndrome have heart defects for example Congenital heart defects which are heart structure defects, Total Anomalous Pulmonary Venous Return (abnormalities in the blood flow to the heart.) It is very dangerous to have heart defects and many can lead to life threatening conditions.

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Skin tags or pits are most likely to form in or around the ears of an individual with this mutation and in some cases the ears are deformed. This is the most common symptom of Cat eye syndrome and in many cases part of the ear is missing.

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In a majority of individuals with Cat eye syndrome there are anal abnormalities such as Anal Stenosis where the anal opening is unusually small, Anal Atresia where the anal canal is absent, or Fistula which is where an opening leads to abnormal places. Most anal abnormalities are corrected with surgery.

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Coloboma or the cat eyed appearance from which the disease gets its name is caused by the lack of ocular tissue. Usually it comes from early development where a fissure in the bottom of the eye failed to close. The affected areas include the Iris, Choroid, and Retina. In most cases Coloboma doesn’t affect vision but more extensive Coloboma can result in abnormal vision or blindness.

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As far as research goes for Cat eye syndrome, we know how to identify it and we know the mutation itself can't be treated but some symptoms can be cured. Since the mutation itself can't be cured there isn’t research for a cure but there are experimental therapies to help.

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There aren’t any treatments or cures for Cat Eye Syndrome seeing as its a permanent change to the twenty second chromosome, some symptoms of CES can be cured though, but since Cat Eye Syndrome effects many different parts of the body you will need more than one doctor to help. Some options to treat symptoms that are caused by cat eye syndrome are, surgeries for heart and skeletal problems or even cleft palate problems and hormone therapy for any growth issues.

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In some cases Cat eye syndrome can be diagnosed before birth, if there are suspicious features on the ultra sound there can be other tests to help come to diagnosis such as Amniocentesis or Chorionic Villus sampling.

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Cat eye syndrome (CES) or Schmid-Fraccaro syndrome is caused by a chromosome twenty two inverted duplication mutation, which is where part of the chromosome breaks off and reattaches, but in that process became flipped around, and the duplication is just how part of the twenty second chromosome will have the short arm and part of the long arm present four times, creating the mutation.

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Cat Eye Syndrome Mutated Chromosomes

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Normal Chromosomes

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Chromosome 22 Central
http://www.c22c.org/ces.htm
Chromosome 22 central is a website for chromosome 22 mutations there are Facebook support group links and information on the link I provided.

Information (the below information was provided by NORDs cat eye syndrome article)
c/o Murney Rinholm

7108 Partinwood Drive

Fuquay-Varina, NC 27526 USA

Phone: (919) 567-8167

Email: usinfo@c22.org

Cat Eye Syndrome International
https://cateyesyndrome.info/association/awareness/
Cat eye syndrome international is a website spreading awarenes  for cat eye syndrome. On their website you can find information on cat eye syndrome as well as ways to support people with this mutation and help spread awarenes.

Information (the information below was provided by NORDs article on cat eye syndrome)

via Casape 26

00156 Rome ITALY

Phone: 39695060503

Email: direction@cateyesyndrome.info