Sprengel deformity syndrome

Also known as: Congenital high scapula

Congenitally elevated scapula.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Spine
Sex & age distribution: Male: affected; Female: affected, female predominance; Children: yes, congenital
Gene(s) involved: PAX1

Etiology & mechanism

Failure of scapular descent during development.

Gene(s) involved (1)

PAX1

Symptoms & signs (4)

elevated scapulalimited shoulder abductionscoliosiswebbed neck

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.