NORD gratefully acknowledges Roger Cornwall, MD, Clinical Director of Pediatric Orthopaedics, Associate Professor of Orthopaedic Surgery and Developmental Biology, Cincinnati Children’s Hospital Medical Center, for assistance in the preparation of this report.
Sprengel deformity is a rare congenital disorder in which the shoulder blade (scapula) is too high on one side of the body. The affected abnormal shoulder blade is also abnormally connected to the spine, often restricting movement of the shoulder. The affected shoulder blade may also be underdeveloped and smaller than normal and rotated toward the middle of the body. In some cases, the shoulder blade may be irregularly-shaped (dysplastic). In addition, a lump may develop at the base of the neck. Sprengel deformity can occur as an isolated, single defect or in association with other abnormalities. The disorder is typically present at birth (congenital), although it may not become apparent until an affected individual grows older. The exact, underlying cause of Sprengel deformity is unknown. The disorder appears to occur randomly, for no apparent reason (sporadically), although some rare cases have run in families.
Often, only one shoulder blade (i.e. one side of the body) is affected. However, in some cases both shoulder blades can be affected. Generally, these abnormalities tend to be painless. The degree of elevation and displacement in Sprengel deformity can vary greatly from one person to another and can range from very mild, in which the abnormality cannot be seen when wearing clothes, to severe cases in which the shoulder is noticeably elevated. Milder cases can go undiagnosed until adolescence. The reported range of displacement of the shoulder blade is 2-10 centimeters, or approximately a half an inch to 4 inches.
The main signs and symptoms of Sprengel deformity are limited or restricted movement of the arm and shoulder blade on the affected side as well as the cervical spine. Some affected individuals have neck deformities as well, ranging from mild tilting (torticollis) to severe spine deformity. In severe cases, the neck may be abnormally short (brevicollis) and webbed.
In approximately 75% of cases, Sprengel deformity is associated with additional abnormalities, most commonly Klippel-Feil syndrome, but also scoliosis, spina bifida, hemivertebrae, rib segmentation abnormalities, clavicular abnormalities, and underdevelopment (hypoplasia) of neck or shoulder muscles.
The exact underlying cause is unknown. Most cases occur randomly, for no apparent reason (sporadically).
Researchers believe that the disorder occurs early during fetal development. In a developing fetus, the shoulder blade initially forms near the vertebrae of the cervical spine. During the third month of pregnancy, the shoulder blade moves or ‘migrates’ down to its normal position. In individuals with Sprengel deformity this migration fails to occur. The developing shoulder blade remains too high and often fails to fully form. In some cases, an abnormal connection made up of fibrous bands of tissue develops between the displaced shoulder blade and the spine (omovertebral bar), which can severely limit movement of the shoulder. This structure may harden (ossify) and become known as the omovertebral bone.
In extremely rare cases, Sprengel deformity has run in families suggesting that in these cases the disorder may occur as a genetic defect inherited in an autosomal dominant manner.
Most reports in the medical literature state that Sprengel deformity affects females more often than males by a ratio of 3-1. However, other reports state that the disorder affects males and females in equal numbers.
A diagnosis of Sprengel deformity is based upon the identification of characteristic symptoms, a thorough clinical evaluation, and a variety of specialized tests, particularly advanced imaging tests.
An anteroposterior chest x-ray, or chest radiograph, can accurately be used to diagnose Sprengel deformity. Anteroposterior means ‘front to back’. During this x-ray exam, the individual’s back is against the film plate and the x-ray is in front. The exam can show the elevated and rotated shoulder blade.
Advanced imaging techniques include computed tomography (CT) scans and magnetic resonance imaging (MRI), and are commonly used to confirm a diagnosis of Sprengel deformity. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. These tests can reveal the presence of an omovertebral bone. Advanced imaging techniques are also beneficial for planning and guiding surgery intervention.
The presence of an omovertebral bone can sometimes be difficult to detect on imaging studies because off the possibility of superimposed bones.
The mainstay of treatment for Sprengel deformity is surgery. However, many affected individuals will not require surgical intervention because they have a mild form of the disorder with minimal restriction of movement. Children between 3-8 years of age are the best candidates for surgical intervention, which is based on significant cosmetic or functional (i.e. significant restriction of movement) concerns. In some cases, shoulder blade position and/or shoulder range of motion can still be abnormal even after surgery. The presence of additional abnormalities can affect the outcome of surgery. An omovertebral bone or its fibrous equivalent must be removed during surgery.
There are several surgical procedures used to treat individuals with Sprengel deformity. The main two are the modified Green scapuloplasty and the Woodward procedure. Decisions concerning the specific surgical technique to use is best made with physicians and other members of the healthcare team in close consultation with the family based upon the specifics of the individual case, a thorough discussion of potential discussion of the potential benefits and risks, including long-term effects and other appropriate factors.
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Hefti F, Brunner R, Freuler F, Hasler C, Jundt G. Eds. Sprengel Deformity. In: Pediatric Orthopedics in Practice. Springer, Berlin, Germany; 2007:477-478.
Bowen JR, Tokmakova KP. Sprengel Deformity. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:257-258.
Fontecha CG, Navarro Cano E, Soldado F, Barber J. Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective surgery technique. J Pediatr Orthop B. 2014;23:589-593. http://www.ncbi.nlm.nih.gov/pubmed/25171572
Wada A, Nakamura T, Fujii T, et al. Sprengel deformity: morphometric assessment and surgical treatment by the modified Green procedure. J Pediatr Orthop. 2014;34:55-62. http://www.ncbi.nlm.nih.gov/pubmed/23774200
Bindoudi A, Kariki EP, Vasiliadis K, Tsitouridis I. The rare Sprengel deformity: our experience with three cases. J Clin Imaging. 2014;4:55. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220418/
Walstra FE, Alta TD, van der Eijken JW, Willems WJ, Ham SJ. Long-term follow-up of Sprengel’s deformity treated with the Woodward procedure. J Shoulder Elbow Surg. 2013;22:752-759. http://www.ncbi.nlm.nih.gov/pubmed/23182957
Harvey EJ, Bernstein M, Desy NM, Saran N, Ouellet JA. Sprengel deformity: pathogenesis and management. 2012; J Am Acad Orthop Surg. 2012;20:177-186. http://www.ncbi.nlm.nih.gov/pubmed/22382290
Guillaume R, Nectoux E, Bigot J, et al. Congenital high scapula (Sprengel’s deformity): four cases. Diagn Interv Imaging. 2012;93:878-883. http://www.ncbi.nlm.nih.gov/pubmed/23084489
Gonen E, Simsek U, Solak S, et al. Long-term results of modified green method in Sprengel’s deformity. J Child Orthop. 2010;4:309-314. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908338/
Aydinli U, Ozturk C, Akesen B, Ozer O. Surgical treatment of Sprengel’s deformity: a modified Green procedure. Acta Orthop Belg. 2005;71:264-268. http://www.ncbi.nlm.nih.gov/pubmed/16035698
Farsetti P, Weinstein SL, Caterini R, De Maio F, Ippolito E. Sprengel’s deformity: long-term follow-up study of 22 cases. J Pediatr Orthop B. 2003;12:202-210. http://www.ncbi.nlm.nih.gov/pubmed/12703036/
Bellemans M, Lamoureux, J. Results of surgical treatment of Sprengel deformity by a modified Green’s procedure. J Pediatr Orthop B. 1999;8:194-96. http://www.ncbi.nlm.nih.gov/pubmed/8784708
Borges JL, Shah A, Torres BC, Bowen JR. Modified Woodward procedure for Sprengel deformity of the shoulder: long-term results. J Pediatr Orthop. 1996;16:508-13. http://www.ncbi.nlm.nih.gov/pubmed/8784708
Leibovic SJ, Ehrlich MG, Zaleske DJ. Sprengel deformity. J Bone Joint Surg Am. 1990;72:192-197. http://www.ncbi.nlm.nih.gov/pubmed/2303505
FROM THE INTERNET
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:184400; Last Update:09/15/2009. Available at: http://omim.org/entry/184400 Accessed on: November 14, 2016.
Wheeless CR. Sprengel’s Deformity. Wheeless’ Textbook of Orthopaedics. January 3, 2013. Available at: http://www.wheelessonline.com/ortho/sprengels_deformity Accessed November 14, 2016.
Thacker MM, Feldman DS. Sprengel Deformity. Emedicine Journal, August 4, 20146. Available at: http://emedicine.medscape.com/article/1242896-overview Accessed on: November 14, 2016.
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