Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat eye syndrome have three (trisomic) or four (tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies. The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when  heart or kidney abnormalities are seen. Signs and symptoms
Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes)
Preauricular pits/tags (small depressions/growths of skin on the outer ears)
Anal atresia (abnormal obstruction of the anus)
Downward-slanting palpebral fissures (openings between the upper and lower eyelids)
Cleft palate
Kidney problems (missing, extra, or underdeveloped kidneys)
Short stature
Scoliosis/skeletal problems
Cardiac defects (such as TAPVR)
Micrognathia (smaller jaw)
Hernias
Biliary atresia
Rarer malformations can affect almost any organ
Intellectual disability – many are intellectually normal; about 30% of CES patients have moderately impaired mental development, although severe intellectual disability is rare.The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients, but over half of the CES patients in the literature do not present with this trait. Genetics
The small supernumerary marker chromosome (sSMC) in CES usually arises spontaneously. It may be hereditary and parents may be mosaic for the marker chromosome, but show no phenotypic symptoms of the syndrome.
At the end of the 34-week treatment period, truncal fat decreased by 1.06%, on average, among participants taking weekly somapacitan while it increased among participants taking the placebo by 0.47%. In the daily somatropin group, truncal fat decreased by 2.23%. Participants in the weekly somapacitan and daily somatropin groups had similar improvements in other clinical endpoints. Society and culture
Legal status
Somapacitan was approved for medical use in the United States in August 2020. The U.S. Food and Drug Administration (FDA) granted the approval of Sogroya to Novo Nordisk, Inc.On 28 January 2021, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Sogroya, intended for the treatment of growth hormone deficiency in adults. The applicant for this medicinal product is Novo Nordisk A/S. Somapacitan was approved for medical use in the European Union in March 2021. See also
Growth hormone therapy

References
External links
"Somapacitan". Drug Information Portal. U.S. National Library of Medicine. Clinical trial number NCT02229851 for "Trial to Compare the Efficacy and Safety of NNC0195-0092 (Somapacitan) With Placebo and Norditropin FlexPro (Somatropin) in Adults With Growth Hormone Deficiency. (REAL 1)" at ClinicalTrials.gov