Ophthalmology · Ophthalmology / Congenital malformation
Cat eye syndrome
also: Schmid–Fraccaro syndrome
Coloboma with anal atresia, caused by an extra marker chromosome.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- CECR2
- Alternative names & eponyms
- Schmid–Fraccaro syndrome
Etiology & mechanism
Tetrasomy of chromosome 22q11 from a supernumerary bisatellited chromosome.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Cat eye syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Emanuel syndrome
heart defects, preauricular tags
1 shared
Bardet–Biedl syndrome
renal anomalies
1 shared
CHARGE syndrome
heart defects
1 shared
Congenital rubella syndrome
heart defects
1 shared
Cornelia de Lange syndrome
heart defects
1 shared
Duane-radial ray syndrome
renal anomalies
1 shared
Edwards syndrome
heart defects
1 shared
Fanconi anemia
renal anomalies
1 shared
Fetal valproate syndrome
heart defects
1 shared
Kleefstra syndrome
heart defects
Shares genes with
None.
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