Ophthalmology · Ophthalmology / Congenital malformation
Marshall syndrome
also: Marshall–Stickler overlap
Stickler-like syndrome with prominent eyes and short stature.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- COL11A1
- Alternative names & eponyms
- Marshall–Stickler overlap
Etiology & mechanism
COL11A1 splice-site mutations.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Marshall 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
Epstein syndrome
cataract, hearing loss
2 shared
Hajdu–Cheney syndrome
hearing loss, short stature
2 shared
Hunter syndrome
hearing loss, short stature
2 shared
Knobloch syndrome
cataract, high myopia
2 shared
MERRF syndrome
hearing loss, short stature
2 shared
Resistance to thyroid hormone
hearing loss, short stature
2 shared
Smith–Magenis syndrome
hearing loss, short stature
2 shared
Stickler syndrome
hearing loss, high myopia
2 shared
Turner syndrome
hearing loss, short stature
2 shared
Weill–Marchesani syndrome
high myopia, short stature
Shares genes with
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