Rare Endocrinology News

Disease Profile

Sprengel deformity

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

Q74.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital upward displacement of the scapula; High scapula; Sprengel's shoulder;

Categories

Congenital and Genetic Diseases; Lung Diseases; Musculoskeletal Diseases

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]

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 fiberlike 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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal shoulder morphology
Abnormality of the shoulder
0003043
Short neck
Decreased length of neck
0000470
Shoulder muscle hypoplasia
Underdeveloped shoulder muscle
0008952
Torticollis
Wry neck
0000473
5%-29% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cervical segmentation defect
0004632
Hemivertebrae
Missing part of vertebrae
0002937
Neck muscle hypoplasia
Decreased size of neck muscle
Small neck muscle
Underdevelopment of neck muscle

[ more ]

0008984
Rib segmentation abnormalities
0006655
Scoliosis
0002650
Spina bifida occulta
0003298
Sporadic
No previous family history
0003745
Sprengel anomaly
High shoulder blade
0000912

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]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    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.

        References

        1. Mihir M Thacker. Sprengel Deformity. Medscape Reference. November 7, 2014; https://emedicine.medscape.com/article/1242896-overview.
        2. Elena Trajcevska et. al. Sprengel Deformity. Radiopaedia. 2016; https://radiopaedia.org/articles/sprengel-deformity.
        3. Sprengel Deformity. NORD. 2000; https://rarediseases.org/rare-diseases/sprengel-deformity/.
        4. Sprengel Deformity. OMIM. December 30, 2008; https://www.omim.org/entry/184400.
        5. 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.

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