dup(22)(q11)
MIM.115470
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)
- 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
- 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