Sprengel deformity

Other Names: Congenital upward displacement of the scapula; High scapula; Sprengel's shoulder; Congenital elevation of the scapula; Sprengel's deformity

Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula).

Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing.

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Cause

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).

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported.

Signs and 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).

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.

Other features that have been found in association with Sprengel deformity include:

• 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

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormal shoulder morphology(Abnormality of the shoulder)
• Short neck(Decreased length of neck)
• Shoulder muscle hypoplasia(Underdeveloped shoulder muscle)
• Torticollis(Wry neck)

5%-29% of people have these symptoms

• Cleft palate(Cleft roof of mouth)

Diagnosis

Plain radiographs can be used for assessing the deformity and presence of omovertebral communication, and to note the postoperative correction.

Cho et al. used three-dimensional CT (3D-CT) to evaluate scapular dysplasia and malpositioning and suggested roles in preoperative planning.

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.
• For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. 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.
• For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. 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). 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.
• 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.

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.

NIH genetic and rare disease info

• NIH info on Sprengel deformity

Sprengel deformity is a rare disease.

Sprengel deformity Resources
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