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Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. Majority of the cases are sporadic with very few having autosomal dominant inheritance.
The deformity is associated with the following conditions:-
*
The scapula is small and rotated so that its inferior edge points toward the spine. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as an omovertebral bone.
There is a high correlation between Sprengel's deformity and
Diagnosis is clinical and can be confirmed by instrumental diagnostics like
Klippel–Feil syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). It results in a limited ability ...
(most common)
* congenital scoliosis,
* hemivertebrae
Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condi ...
,
* cervical ribs,
* fused ribs,
* omovertebral connections which are fibrous, cartilaginous or bony connection between the superomedial angle of scapula
The scapula (plural scapulae or scapulas), also known as the shoulder blade, is the bone that connects the humerus (upper arm bone) with the clavicle (collar bone). Like their connected bones, the scapulae are paired, with each scapula on eith ...
with the spinous process, lamina or transverse process of cervical spine
* spina bifida
Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, men ...
,
* cleft palate.
The left shoulder is more commonly affected, but it can occur bilaterally as well.
About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.
Presentation
The scapula is small and rotated so that its inferior edge points toward the spine. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as an omovertebral bone.
There is a high correlation between Sprengel's deformity and Klippel–Feil syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). It results in a limited ability ...
.
Diagnosis
Diagnosis is clinical and can be confirmed by instrumental diagnostics like conventional radiography
Projectional radiography, also known as conventional radiography, is a form of radiography and medical imaging that produces two-dimensional images by x-ray radiation. The image acquisition is generally performed by radiographers, and the images ...
and CT scan. It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel–Feil syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). It results in a limited ability ...
).
Eponym
It is named for German surgeon Otto Sprengel, who described it in 1891.O. K. Sprengel. Die angeborene Verschiebung des Schulterblattes nach oben. Archiv für klinische Chirurgie, Berlin, 1891, 42: 545-549.References
External links
Congenital disorders of musculoskeletal system {{genetic-disorder-stub