Rare diseases · Sign or symptom
Sprengel anomaly
High shoulder blade
HP:0000912
What it means
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible.
Rare diseases that can present with this25
Very common80–99%
2Common30–79%
14- Acrofacial dysostosis, Rodríguez type
- Acromesomelic dysplasia, Maroteaux type
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Cerebrofaciothoracic dysplasia
- Craniofrontonasal dysplasia
- Emery-Dreifuss muscular dystrophy
- Grant syndrome
- Isolated Klippel-Feil syndrome
- Neuralgic amyotrophy
- Noonan syndrome with multiple lentigines
- Renpenning syndrome
- White forelock with malformations
- X-linked Emery-Dreifuss muscular dystrophy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Congenital, upward displacement of the scapula · High scapula · Sprengel deformity
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.