Sprengel deformity

Title

Other Names:

Congenital upward displacement of the scapula; High scapula; Sprengel's shoulder; Congenital upward displacement of the scapula; High scapula; Sprengel's shoulder; Congenital elevation of the scapula; Sprengel's deformity See More

Categories:

Congenital and Genetic Diseases; Lung Diseases; Musculoskeletal Diseases

Summary Summary

Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula).^[1] Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing.^[2] Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities.^[1]^[3] Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported.^[3]^[4] It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.^[1]

Last updated: 1/5/2016

Symptoms Symptoms

Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally).^[1]

In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it.^[3]

Other features that have been found in association with Sprengel deformity include:^[1]^[3]

scoliosis
Klippel Feil syndrome
limb length discrepancy
an underdeveloped backbone (hemivertebrae)
missing, fused, or extra ribs (cervical ribs)
abnormalities of the collarbone
abnormalities of the chest
organs of the body displaced on the opposite side (ex: liver on the left and heart on the right)
spina bifida occulta
cleft palate

Last updated: 1/5/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the shoulder	90%
Sprengel anomaly	90%
Autosomal dominant inheritance	-
Cervical segmentation defect	-
Hemivertebrae	-
Neck muscle hypoplasia	-
Rib segmentation abnormalities	-
Scoliosis	-
Shoulder muscle hypoplasia	-
Spina bifida occulta	-
Sporadic	-

Last updated: 9/1/2016

Treatment Treatment

Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles.^[1]

For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula.^[1] Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited.^[1]

For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity.^[5] This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing).^[2] Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria.^[5]

The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.^[1]

Last updated: 1/6/2016

Prognosis Prognosis

The long-term outlook (prognosis) for people with Sprengel deformity depends on several factors, including:

Severity of the deformity
Age at surgery - generally, results of surgery in children older than age 6 are not as good
Type of surgical procedure - relocation surgeries have better functional outcomes
Associated abnormalities - those such as Klippel Feil syndrome can compromise the prognosis^[1]

Last updated: 1/6/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Organizations Supporting this Disease

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: 407-895-0802
E-mail: staff@birthdefects.org
Website: http://www.birthdefects.org/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Sprengel deformity. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

GARD Answers GARD Answers

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My 3 year old daughter has Sprengel deformity. I have a question as to whether surgery is required or if there is another option for treatment. I know that this operation is difficult, but I can help my daughter. See answer

References References

Mihir M Thacker. Sprengel Deformity. Medscape Reference. November 7, 2014; http://emedicine.medscape.com/article/1242896-overview.
Elena Trajcevska et. al. Sprengel Deformity. Radiopaedia. 2016; http://radiopaedia.org/articles/sprengel-deformity.
Sprengel Deformity. NORD. 2000; http://rarediseases.org/rare-diseases/sprengel-deformity/.
Cassandra L. Kniffin. Sprengel Deformity. OMIM. December 30, 2008; http://www.omim.org/entry/184400.
Wada A, et. al. Sprengel deformity: morphometric assessment and surgical treatment by the modified green procedure. Journal of pediatric orthopedics. January, 2014; 34(1):55-62.