Ophthalmology · Ophthalmology / Congenital malformation
Duane-radial ray syndrome
also: Okihiro syndrome
Duane retraction with radial ray defects.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- SALL4
- Alternative names & eponyms
- Okihiro syndrome
Etiology & mechanism
SALL4 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Duane-radial ray 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.
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Shares symptoms with
3 shared
Okihiro syndrome
hearing loss, radial ray defects, renal anomalies
2 shared
Fanconi anemia
radial ray defects, renal anomalies
2 shared
Turner syndrome
hearing loss, renal anomalies
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Bardet–Biedl syndrome
renal anomalies
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Cat eye syndrome
renal anomalies
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
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