Congenitally elevated scapula.
- Specialty
- Orthopedics
- Subspecialty
- Orthopedics / Spine
- Sex & age distribution
- Male: affected; Female: affected, female predominance; Children: yes, congenital
- Gene(s) involved
- PAX1
- Alternative names & eponyms
- Congenital high scapula
Etiology & mechanism
Failure of scapular descent during development.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Sprengel deformity 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
1 shared
Hyperimmunoglobulin E syndrome
scoliosis
1 shared
Job syndrome
scoliosis
1 shared
Klippel–Feil syndrome
scoliosis
1 shared
Marfan syndrome
scoliosis
1 shared
Noonan syndrome
webbed neck
1 shared
Proteus syndrome
scoliosis
1 shared
Rett syndrome
scoliosis
1 shared
Shprintzen–Goldberg syndrome
scoliosis
1 shared
Sotos syndrome
scoliosis
1 shared
Turner syndrome
webbed neck
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