Despite being the most common congenital anomaly of the scapula, Sprengel's deformity is rarely encountered in clinical practice [1]. As the scapula fails to descend to its appropriate anatomical position during embryonic life (specifically between the 9th and 12th week of development), it remains abnormally elevated, and is prominent from birth or early childhood, depending on the severity of the defect [1] [2] [3]. Apart from the obviously misaligned scapula compared to the other shoulder girdle (although bilateral Sprengel's deformity has been described in the literature in about 10% of cases), scoliosis, torticollis, asymmetric distortion of the skull (termed caput obstiosum) and restricted motion, particularly abduction of the shoulder joint, are other notable features [2] [3] [4]. For still undisclosed reasons, the left scapula is more commonly affected [1]. One of the hallmarks of this congenital anomaly is the presence of an omovertebral bone, a junction between the scapula and the adjacent spinous processes, and is seen in 16-55% of cases [5] [6]. In addition, a myriad of skeletal defects might be seen in Sprengel's deformity, including hypoplasia of cervical muscles, femur and tibial shortening, diastematomyelia, as well as hip and radial head dislocations [2] [4] [7]. Furthermore, Klippel-Feil Syndrome (KFS), spina bifida, and several costal, clavicular and vertebral disorders have been associated with Sprengel's deformity [2] [7]. Extraskeletal defects are common in children suffering from this condition, most common being a cleft palate, strabismus, renal changes, iniencephaly, and inguinal hernia [2] [7]. Many reports have revealed that Sprengel's deformity is more commonly described in women, with the male-to-female ratio reaching almost 3:1 [1] [3] [4] [6], but other studies show an equal distribution [2].

• Weakness

  The child should also be checked for limb length discrepancies and muscle weakness. [orthoseek.com]

  We report a case of a 14-year-old girl with bilateral Sprengel's deformity presenting with a progressive bilateral lower limb weakness and gait abnormality. [ncbi.nlm.nih.gov]

  Injury to the axillary nerve, such as after a shoulder dislocation, produces deltoid-muscle weakness, with inability to abduct the shoulder. Injury to the long thoracic nerve produces winging of the scapula. [orthopaedicclinic.com.sg]

  He also had winging of the right shoulder that confirmed weakness of seratus anterior muscle. Ipsilateral pectoralis major was absent. Total muscular force of the right shoulder girdle is about 4+. [hindawi.com]

  The muscle may be absent or weak, especially in its lower portion. The rhomboids and levator scapulae are usually hypoplastic and partially fibrosed. The serratus anterior may be weak. [boneandspine.com]

• Disability

  Range of motion, Constant score, DASH (Disabilities of the Arm, Shoulder and Hand) score, and simple shoulder test (SST) were obtained to evaluate shoulder function. [ncbi.nlm.nih.gov]

  Treatment and prognosis Surgery is performed to improve cosmetic and functional disability. It is generally considered for patients between 3 and 8 years of age who have moderate to severe disability (or a Cavendish score of 3-4) 1. [radiopaedia.org]

  The condition maybe sometimes be bilateral, in which case, although it is cosmetically much more acceptable, functionally, it is more disabling. About 75% of all observed cases are girls. [shoulderdoc.co.uk]

  Deformity in humans. 61 Bertolini G...Caldin M 25196886 2015 20 Clinical analysis of 113 patients with Poland syndrome. 61 Yiyit N...Oksuz S 25633462 2015 21 Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability [malacards.org]

  The condition may sometimes be bilateral, which is more cosmetically acceptable but functionally more disabling. Clinical Features The scapula is located higher than normal, by around two to ten centimetres 4. [ispub.com]

• Short Stature

  stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability. 61 Isidor B...David A 25463316 2015 22 Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective [malacards.org]

  It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature. [icd10data.com]

  stature, delayed bone growth, delayed communication skills and distinct facial features)25 Goldenhar syndrome (characterised by incomplete development of the ear, nose, soft palate, lip, and mandible)26 The most common syndrome is Klippel-Feil syndrome [ispub.com]

  Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability. Eur J Med Genet. 2015;58(1):47–50. 9. Soares de Araujo JS, Regis CT, Gomes RG, Tavares TR, Rocha Dos Santos C, Assuncao PM, et al. [molecularcytogenetics.biomedcentral.com]

• Falling

  complex congenital heart disease, limb and digit anomalies etc. [3] NTDs such as spina bifida, meningocele, myelomeningocele, lipomyelomeningocele and diastematomyelia have been reported to be associated with this syndrome. [4] Our case would thus fall [mjdrdypu.org]

• Swelling

  Department of Physical Medicine and Rehabilitation, Medical School of Duzce University, PO Box 81620 Konuralp-Duzce, Turkey. doi: 10.1097/PHM.0b013e3182240c94 Free SDC A 10-yr-old boy presented to a thoracic surgery outpatient clinic complaining of swelling [journals.lww.com]

• Short Trunk

  […] neck, short trunk and multiple vertebral and rib anomalies. [jcsr.co.in]

  Clinically, it presents with a short trunk, a short neck and scoliosis which is mild and non-progressive in nature [1]. SCDO is inherited in an autosomal recessive manner. [medresearch.in]

  They have a higher mortality rate and inherit the disorder in an autosomal recessive manner. (2) Spondylocostal dysostosis (SCDO) characterized by normal life expectancy, short trunk, short neck and non-progressive mild scoliosis. [mjdrdypu.org]

• Suggestibility

  The co-occurrence of these malformations suggests an unknown shared etiology. Therefore, we reviewed the medical records of eight children presenting with both malformations and performed a review of the literature. [ncbi.nlm.nih.gov]

  We suggest, to emphasise the nature of the incomplete scapular descent and associated congenital anomalies, and clarify the imprecise common usage of the term ‘Sprengel’ this condition be called the ‘Congenital Undescended Scapula Syndrome’. [online.boneandjoint.org.uk]

  There was no history suggestive of a neurological deficit, breathlessness or limitation of the shoulder joint associated with it. On examination, her vital parameters were within normal limits. [jpgmonline.com]

• Headache

  Case Report A 14-year-old boy with known KFS clinically presented with repetitive episodes of severe occipital headache, vertigo, and nausea combined with neck and shoulder discomfort, which lasted for weeks. [ajnr.org]

  No other symptoms were reported, apart from Greitemann et al. [23] who described arm and cervicothoracic pain in seven patients and a chronic headache in one case. [mdpi.com]

A comprehensive clinical and imaging workup is necessary to make the diagnosis of Sprengel's deformity. A simple physical examination of the shoulder girdle and the scapula is perhaps the vital step in making a presumptive diagnosis, but milder deformities can be missed by the physician. For this reason, Sprengel's deformity is classified into four grades on the basis of the severity [2] [6]:

• Grade I - The deformity of the scapula is very mild, it cannot be observed without close inspection and palpation, and the shoulders are at an equal level.
• Grade II - A visible lump in the neck is seen even when the patient is dressed, with a minor difference in the shoulder levels.
• Grade III - Significant elevation of the shoulder on the side of scapular elevation (between 2-5 cm).
• Grade IV - The superior pole of the scapula is in close proximity to the occipital bone of the endocranium.

When sufficient clinical suspicion is raised based on clinical findings, imaging studies of the thorax are needed to confirm the diagnosis. Plain radiography is a useful initial method to assess more severe cases (eg. in whom omovertebral bones are present) and visualize an abnormally elevated scapula, but the role of computed tomography (CT), both two-dimensional (2D) and 3D views, and magnetic resonance imaging (MRI) are superior to X-rays [1] [2] [3] [6]. CT and MRI are beneficial for their roles in determining the exact location of the scapula, also whether other musculoskeletal deformities are present, which has important implications for further treatment [1] [3].

In milder cases no treatment is suggested, but in more severe cases the treatment is surgery. Surgery is best performed when the child is between 3-8 years, the younger the child the better motion and post-operative correction obtained. [henryspink.org]

Thus, the surgical treatment of adults patients with Sprengel's deformity can produce good surgical results. [ncbi.nlm.nih.gov]

Treatment: none generally needed. Grade 2: gelnohumeral joints leel, prominence in the neck visible when dressed. Treatment: consider resection of scapular prominence and omovertebral bar mainly for cosmesis. [eorif.com]

[…] not successful, treatment is primarily surgical; - Surgical Treatment: - timing: - surgery is indicated for children between 3-8 yrs of age w/ sig deformities, both functional and cosmetic; - pts older than 8 yrs of age are not good candidates for scapular [wheelessonline.com]

A proper clinical examination can diagnose the condition at birth or during childhood, and imaging studies are used to confirm the diagnosis and decide on optimal treatment. [symptoma.com]

Complications of surgery rarely include winging of scapula and brachial plexus injury Prognosis Excellent with treatment Sprengel's Deformity. Blue arrows point to elevation and medial angulation of both scapulae. [learningradiology.com]

[…] of success Type of procedure used: Relocation surgeries have better outcomes Associated anomalies: Other underlying medical conditions that usually accompany Sprengel Deformity, such as Klippel-Feil syndrome, will have an impact on the final prognosis [dovemed.com]

Treatment and prognosis Surgery is performed to improve cosmetic and functional disability. It is generally considered for patients between 3 and 8 years of age who have moderate to severe disability (or a Cavendish score of 3-4) 1. [radiopaedia.org]

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 The long-term outlook ( prognosis ) for people with Sprengel deformity depends on several [rarediseases.info.nih.gov]

Surgical relocation of the scapula may lead to scissoring of the brachial plexus and / or subclavian artery between the clavicle and first rib, therefore must morcelise the middle 1/3 of the clavicle prior to commencing the posterior surgery Prognosis [orthopaedicsone.com]

Although the etiology of both spinal dysraphism and Sprengel's deformity remains unclear, all deformities of the spine, ribs, and shoulder might result from a common genetic defect affecting somitogenesis. [ncbi.nlm.nih.gov]

ETIOLOGY: ETIOLOGY This may be due to failure of scapular descent from the cervical spine.The high scapula may be attached to the spine by a tough fibrous band or a cartilaginous bar(the omovertebral bar). [authorstream.com]

Currently, the etiology is unknown but has been postulated to involve neural crest defects (Matsuda, 2005) or oligohydramnios (Horwitz, 1908). [posna.org]

[…] synonyms: Sprengel’s Deformity ICD-9 755.52 (congenital elevation of the scapula; Sprengel's deformity) Sprengel’s Deformity Etiology / Epidemiology / Natural History Failure of scapular descent during embryologic development. [eorif.com]

Epidemiology Incidence most common congenital shoulder anomaly in children Demographics male to female ratio 1:3 Anatomic location bilateral in 10-30% of cases Etiology Associated conditions scapular winging hypoplasia omovertebral connection between [orthobullets.com]

Epidemiology: The true incidence is unknown and, although the condition is rare, it is the most common congenital shoulder girdle deformity. It may be associated with cervical spine and renal anomalies. [posna.org]

Synonyms: Undescended scapula; Congenital high scapula Epidemiology Prevalence More common in girls than in boys, with a ratio of 3:1 Risk Factors Myelomeningocele Congenital cervical fusion Genetics It is almost always a sporadic condition. [orthopaedicclinic.com.sg]

Epidemiology Sprengel’s deformity is the most common congenital malformation of the shoulder girdle 9. It is more common in males, with a male to female ratio of 3:1 4. [ispub.com]

[…] in children Demographics male to female ratio 1:3 Anatomic location bilateral in 10-30% of cases Etiology Associated conditions scapular winging hypoplasia omovertebral connection between superior medial angle of scapula and cervical spine (30-50%) Pathophysiology [orthobullets.com]

Pathophysiology Despite the work of Engel (bleb theory), Oxnard, and Ogden et al, a satisfactory explanation for the pathogenesis of the Sprengel deformity is yet to be derived. [3, 12, 13, 14] Grossly, the scapula is dysplastic and is located higher [emedicine.com]

- 3 wks of postoperative immobilization are required; - osteotomy of clavicle may be required to prevent compression of N/V structures against first rib; - postoperative improvement in shoulder abduction is maintained, although some loss of scapular [wheelessonline.com]

Older children may require claivicular osteotomy to prevent iatrogenic nerve injury Sprengel’s Deformity Associated Deformities Klippel-Feil syndrome Scoliosis Torticolllis Facial asymmentry Hemivertebrae Rib synostosis Clavicular abnormalities Renal [eorif.com]

[…] scapula - Scapular is subsequently rotated and translated caudally - detached muscle origins are then sutured to more inferior vertebral spinous processes - 3 weeks of post-operative immobilisation are required - osteotomy of clavicle may be required to prevent [henryspink.org]

The non-operative protocol should include physiotherapy to maintain shoulder movement and prevent torticollis, as well as observation for progression of the abnormality and assessment of the associated abnormalities. [pulsus.com]

1. Bindoudi A, Kariki EP, Vasiliadis K, Tsitouridis I. The Rare Sprengel Deformity: Our Experience with Three Cases. J Clin Imaging Sci. 2014;4:55.
2. Kadavkolan AS, Bhatia DN, DasGupta B, Bhosale PB. Sprengel’s deformity of the shoulder: Current perspectives in management. Int J Shoulder Surg. 2011;5(1):1-8.
3. Dilli A, Ayaz UY, Damar Ç, Ersan Ö, Hekimoglu B. Sprengel Deformity: Magnetic Resonance Imaging Findings in Two Pediatric Cases. J Clin Imaging Sci. 2011;1:13.
4. Mittal N, Majumdar R, Chauhan S, Acharjya M. Sprengel’s deformity: association with musculoskeletal dysfunctions and tethered cord syndrome. BMJ Case Rep. 2013;2013:bcr2013009182.
5. Gonen E, Simsek U, Solak S, Bektaser B, Ates Y, Aydin E. Long-Term Results of Modified Green Method in Sprengel’s Deformity. J Child Orthop. 2010;4(4):309-314.
6. Cavendish ME. Congenital elevation of the scapula. J Bone Joint Surg. 1972;54B(3):395–408.
7. Guillaume R, Nectoux E, Bigot J, et al. Congenital high scapula (Sprengel's deformity): four cases. Diagn Interv Imaging. 2012;93(11):878-883.