Canavan Disease : causes, symptoms, diagnosis, treatment

Canavan Disease/Distortion is a rare inherent skeletal anomaly (otherwise called high scapula or inborn high scapula) where an individual has one shoulder bone that sits higher on the back than the other. In the early fetal turn of events, the deformation is because of an imperfection where the shoulder neglects to plummet appropriately from the neck to its last area.


An unusual congenital anomaly in which one side of the body is too high for the shoulder blade is Canavan disease (scapula). The influenced unpredictable shoulder bone is once in a while strangely associated with the spine, frequently forestalling versatility of the shoulder.

The influenced shoulder bone may likewise be immature and turned to the center of the body, more modest than ordinary. In specific cases, the shoulder bone might be sporadically formed (dysplastic).

Furthermore, a knot can be created at the base of the neck. Canavan disfigurement may happen as a disconnected, single, or other imperfection related with irregularities.

The problem is normally present upon entering the world (innate), yet it may not get recognizable until an influenced individual becomes more seasoned.

Signs and symptoms of Canavan Disease

  • Sometimes, it influences only One cutting edge for the shoulder (i.e., one side of the body). It is conceivable, in any case, to harm both shoulder bones in certain circumstances. Ordinarily, these variations from the norm will in general be easy.
  • The level of distortion rise and uprooting can fluctuate incredibly from individual to individual and can go from exceptionally mellow to serious occasions in which the anomaly cannot be seen when wearing garments.
  • The recorded uprooting scope of the shoulder bone is 2-10 centimeters, or around a large portion of an inch to 4 inches.
  • The principal signs and manifestations of Canavan disfigurement are confined or restricted versatility of the arm and shoulder bone on the influenced hand, just as the cervical spine.
  • Some influenced people additionally have neck disfigurements, going from mellow to serious inclining (torticollis).
  • Syndrome of Klippel Feil
  • The discrepancy in limb length
  • An insufficiently established backbone (hemivertebrae)
  • Rib’s incomplete, fused, or extra (cervical ribs)
  • Collarbone abnormalities
  • Chest anomalies
  • Occulta with spina bifida

Causes of Canavan Disease

  • It is unclear the exact underlying cause. For no specific cause, most cases arise spontaneously (sporadically).
  • Researchers conclude that during fetal development, the condition develops early.
  • The shoulder blade shifts or ‘wanders’ back to its usual location during the third month of pregnancy.
  • This migration does not occur in people who are deformed by Sprengel
  • Caused during fetal development by scapular descent failure
  • Elevated, dysplastic effects of scapula
  • Linked cervical spine and renal anomalies
  • Non-operational management for minor deformities.
  • In extreme deformities, operative management may enhance function and cosmesis

Diagnosis of Canavan Disease

In people with the following, Caffey’s malady ought to be suspected: Medical reports of fractiousness, fever and/or pallor took after by swelling of delicate tissues and distress adjoining to the bones involved Radiological perceptions of subperiosteal cortical hyperostosis of the long bone diaphysis (saving epiphysis) and ribs, scapulae, clavicles, and mandibular diaphysis.

Quality focused on testing licenses the clinician to review the gene(s) that are probably going to be incorporated, despite the fact that genomic testing isn’t included. Since there’s a little differential finish of the Caffey disease aggregate, individuals with the undeniable revelations recognized in Suggestive Discoveries are probably going to be examined utilizing quality focused on testing.

however, the individuals who have not been viewed as broke down with Caffey ailment are bound to be investigated using genomic testing


  • One used for grading is the Cavendish Classification 2,6:
  • Grade I: Grade I
  • There is a very slight deformity noted
  • The defect is almost invisible when covered with clothing.
  • The deformity is still mild, but it looks like a bump
  • The high scapula’s superomedial section is convex, creating a bump
  • Moderate deformity at a visible elevation of the affected 2-5 cm.
  • Clavicle or humerus under-development

Radiographic features

  1.     Plain radiography:

The artificial low bone is raised besides interchanged, per the lesser angle across oriented.

Rigout Radiographic Classification 3,7:

Grade I: medial approach of transverse process minor then nonetheless upstairs  

Rating II: tactic amongst the crosswise phase of C5 and T2

Superomedial angle above C5 transverse processes, grade III:


To assess materteral relation and scapula dysplasia and mispositioning, CT with 3D reconstruction is being used. In preoperative preparation, it can be used.


To determine materteral relation, there may be a function in MRI.

Treatment of Canavan Disease

  • Treatment is usually non-operational, typically noted in infancy or toddler years. Surgical symptoms include deficiencies. Before surgery, related abnormalities and comorbidities should be treated.
  • The preferred surgical correction age ranges Around 3 years to 8. Woodward described the traditional method. The materteral attachments and the superomedial corner of the scapula are respected and the root of the trapezius and rhomboids is then distally moved to the spinous processes.
  • Other procedures have also been identified, including the Green procedure. The long-term results of both procedures have been published and describe the development cutting-edge the variety of wave of the shoulder by more than 50 °.


  • Observation observed
  1.           Indications
  • No major cosmetic problems or loss of function of the shoulder
  1.             Operational
  • Extreme cosmetic concerns (abduction < 110-120 degrees) or functional deformities
  • Better surgery from the age of 3 to 8 years
  • Chance of weakness of nerves after 8 years of age

Is Canavan deformity a disability?

Dysplasia of the pectoral girdle, resulting in cosmetic and functional impairment, is Canavan shoulder deformity. Some congenital abnormalities, which also determine the treatment management and outcome, are associated with the deformity.

Types of Treatment:

  1. Woodward Method
  • Medial parascapular muscle detachment and reattachment at the origin of the spinous process to allow the scapula to travel inferiorly and rotate into more shoulder abduction
  • Resection of the superior medial border of the scapula in combination with surgical descent requires modified Woodward

    Schrock, Procedure Green

At the scapular insertion and, extra periosteal detachment of paraspinal muscles. Under the above, extreme deformity procedures to prevent damage to the brachial plexus are performed before the clavicle movement.

    Resection of Bony

For cosmetic issues, extra periosteal resection of proximal scapular prominence may be performed with other processes or alone.

Related disorders


  • Scoliosis is a common disorder in which, instead of going straight up and down, the spine abnormally bends to the left. The precise cause of scoliosis is uncertain in many cases (idiopathic).
  • In other situations, by way of share of a major condition, such as brawny dystrophy, the disorder might evolve. Infants affected may have uneven shoulders.
  • The blade tends to stand extra prominent or pronounced than the other, and the hips are uneven. In particular kids, back pain or minor posterior hurt can happen.


  • Klippel-Feil disease (KFS) is a rare skinny illness usually categorized by nonstandard bonding or combination of binary or more back post (spines) bones in the décolletage. (Selected exaggerated people could similarly have an oddly petite jaw, minimal program of the once and décolletage then a little on the back of the skull.
  • Before symptoms deteriorate or first become apparent later in life, mild cases will go undiagnosed. Cutting-edge certain bags can be related with many added signs and corporal deviations.

 III.            Spina Bifida occulta

This may include Canavan disease, irregular spine curvature (scoliosis), spina Bifida occulta, Absence of spar(s) and further spoke abnormalities,

Furthermore, due to associated spinal cord injury, neurological complications can result in some cases.

For unexplained reasons, the disorder seems to occur spontaneously in several individuals with KFS (sporadically).

Academics have found that GDF6 gene mutations on chromosome 8 are associated with certain cases of KFS. (Choose “Klippel Feil” in the Rare Disease as your search term Da for more information.


Patient and parent preferences must be closely monitored. Non-operative care goals include optimizing strength, range of motion, and shoulder function. However, the deformity is not corrected by non-operative care.

Canavan (also referred to as scapula congenital elevation) is a complex anomaly synonymous with the scapula’s malposition and dysplasia.

The complications of continuous deformity, hypertrophic/wide scars, scapular winging, damage to the brachial plexus, and recurrence of deformity are surgical intervention.


For individuals with Canavan disease, the long-term outlook (prognosis) depends on many factors, including:

The Deformity Severity

Surgical age – In general, the outcomes of surgery in children older than 6 years of age are not as strong.

Form of surgical operation – Procedures for relocation have better practical results

Related anomalies that can compromise the prognosis, such as Klippel Feil syndrome. 

Medical supervision

  • You should look for physicians or other physicians who have experience with this disease if you need medical advice.
  • You might also want to contact a university or tertiary medical center, as these centers tend to see more complicated cases and have the latest technology.
  • Try contacting national or foreign experts if you can’t find a specialist in your local region. Via conferences or research activities, they might be able to refer you to someone they know.
  • If you can’t fly to them for treatment, some specialists might be able to meet with you or your local physicians over the phone or by email.
  • In our guide, How to Locate a Disease Specialist, you will find more tips. To find tools that can help you find specialists, we also invite you to explore the rest of this article.


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