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Features include very common findings: Shoulder muscle hypoplasia, Short neck, Torticollis, and Abnormality of the shoulder girdle musculature and others; and sometimes findings: Cleft palate. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 2 | Shoulder muscle hypoplasia, Neck muscle hypoplasia |
Biomarker and diagnostic research for Sprengel deformity has been reported in the published literature.
Phenotype severity distribution: 5 very common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Sprengel deformity.
34 publications have been identified in PubMed for Sprengel deformity. Research spans Case Report / Case Series (56%), Clinical Trial Publication (24%), and Diagnostic / Biomarker (6%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 19 | 56% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Sprengel deformity
Bones and joints
1 |
Sideways curvature of the spine (scoliosis) |
Head and neck | 1 | Cleft palate |
8 |
24% |
Testing and diagnosis research | 2 | 6% |
Research summaries | 2 | 6% |
Laboratory research | 2 | 6% |
Disease patterns and progression | 1 | 3% |
Alsiddiky A (2026). [PMID: 41970774](https://pubmed.ncbi.nlm.nih.gov/41970774/). *J Orthop Case Rep*. [Case Report / Case Series]
Lee J (2026). [PMID: 41906598](https://pubmed.ncbi.nlm.nih.gov/41906598/). *J Pediatr Orthop*. [Epidemiology / Natural History]
Li T (2026). [PMID: 42130805](https://pubmed.ncbi.nlm.nih.gov/42130805/). *Front Pediatr*. [Clinical Trial Publication]
Zhu F (2026). [PMID: 41568708](https://pubmed.ncbi.nlm.nih.gov/41568708/). *Journal of orthopaedic surgery (Hong Kong)*. [Clinical Trial Publication]
Cury Da Cunha A (2025). [PMID: 40198186](https://pubmed.ncbi.nlm.nih.gov/40198186/). *Medicina*. [Case Report / Case Series]
Laasri K (2025). [PMID: 39497920](https://pubmed.ncbi.nlm.nih.gov/39497920/). *Radiology case reports*. [Case Report / Case Series]
Yazar CO (2025). [PMID: 40178121](https://pubmed.ncbi.nlm.nih.gov/40178121/). *A&A practice*. [Case Report / Case Series]
Scheider P (2025). [PMID: 41464843](https://pubmed.ncbi.nlm.nih.gov/41464843/). *Journal of clinical medicine*. [Basic Science / Preclinical]
Akar A (2025). [PMID: 39229893](https://pubmed.ncbi.nlm.nih.gov/39229893/). *Journal of pediatric orthopedics. Part B*. [Case Report / Case Series]
Shin BK (2025). [PMID: 40089178](https://pubmed.ncbi.nlm.nih.gov/40089178/). *European journal of medical genetics*. [Case Report / Case Series]