Cat eye syndrome
|Cat eye syndrome|
|An example of the defect after which CES is named.|
Cat eye syndrome (CES), or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) (usually 3 times) instead of the usual two times. The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait. There is no significant reduction in life expectancy in patients who are not afflicted with one of CES' life-threatening abnormalities.
Signs and symptoms
- Anal atresia (abnormal obstruction of the anus)
- Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes)
- Downward-slanting Palpebral fissures (openings between the upper and lower eyelids)
- Preauricular pits/tags (small depressions/growths of skin on the outer ears)
- Cardiac defects (such as TAPVR)
- Kidney problems (missing, extra, or underdeveloped kidneys)
- Short stature
- Scoliosis/Skeletal problems
- Intellectual disability – although most are intellectually normal, CES patients occasionally exhibit moderate to severe disability.
- Micrognathia (smaller jaw)
- Cleft palate
- Rarer malformations can affect almost any organ
The chromosomal area included in the cat eye syndrome "critical region" is 22pter→q11.
The abnormalities common to cat eye syndrome were first cataloged in 1899. It was described in association with a small marker chromosome in 1965. Early reports of cat eye syndrome discuss the possibility of chromosome 13 involvement. Now, CES is considered to be present with the chromosome 22 trisomy findings.
- Rosias PR, Sijstermans JM, Theunissen PM, et al. (2001). "Phenotypic variability of the cat eye syndrome. Case report and review of the literature". Genet. Couns. 12 (3): 273–82. PMID 11693792.
- Haab, O. Albrecht v Graefes. Archives of Ophthalmology, 24: 257 only, 1879
- Schachenmann G.; Schmid W.; Fraccaro M.; et al. (1965). "Chromosomes in Coloboma and Anal Atresia". Lancet. 2 (7406): 290. doi:10.1016/S0140-6736(65)92415-3. PMID 14330081.
- Bühler EM, Méhes K, Müller H, Stalder GR (1972). "Cat-eye syndrome, a partial trisomy 22". Humangenetik. 15 (2): 150–62. doi:10.1007/BF00295742. PMID 5049068.
- Cat Eye Syndrome International (CESI onlus): Official International Association for Cat Eye Syndrome