dup(22)(q11)

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).

Autosomal dominant trnsmission

Synopsis

  micrognathia
 preauricular pits
 preauricular tags
 low-set ears
 stenotic external auditory canal
 hypertelorism
 down-slanting palpebral fissures
 coloboma of iris
 coloboma of choroid
 coloboma of retina
 microphthalmos
 cleft palate
 congenital heart defects
 total anomalous pulmonary venous return

 biliary atresia
 malrotation of gut
 anal atresia with fistula
 agenesis of uterus

 renal agenesis
 radial aplasia
 normal to mild mental retardation

 anal atresia with rectovesical fistula or rectovagina fistula or rectovulvar fistula or rectourethral fistula or rectoperineal fistula
 coloboma of the iris
 uni- or bilateral and total or (rarely) partial coloboma of the choroid and/or optic nerve
 microphthalmia (almost always unilateral)
 cleft palate
 congenital heart malformations

• totally anomalous pulmonary venous return (TAPVR)
• tetralogy of Fallot (TOF)

 renal malformations

• absence of 1 or both kidneys
• hydronephrosis
• supernumerary kidneys
• renal hypoplasia

 hernias
 reduction of the auricles to several tags
 atresia of the external auditory canal

 aniridia
 corneal clouding
 coloboma of eyelids
 cataract
 Duane anomaly
 craniofacial malformations

• choanal atresia
• skin tags on the cheeks
• hypothalamic growth hormone deficiency
• cleft lip and palate

 limb malformations

• radial aplasia
• duplication of the hallux
• absent toes
• sirenomelia

 thoracic and abdominal malformations

• absence or synostosis of ribs
• vertebral fusions
• Eisenmenger complex
• pulmonary segmentation defects
• malrotation of the gut
• Meckel diverticulum
• Hirschsprung disease
• biliary atresia
• spina bifida
• MMC
• hypoplastic uterus
• vaginal atresia
• hypospadias

Cytogenetics

 supernumerary inv dup(22)(q11) chromosome, occasionally due to interstitial duplication of 22q11