MCID: SPR031
MIFTS: 28

Sprengel Deformity

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Sprengel Deformity

MalaCards integrated aliases for Sprengel Deformity:

Name: Sprengel Deformity 57 73 20 58
High Scapula 57 73 20 58
Congenital Upward Displacement of the Scapula 20
Congenital Elevation of the Scapula 20
Sprengel's Deformity 20
Sprengel's Shoulder 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
majority of cases are sporadic, some autosomal dominant families have been described
occurs more frequently in females
left side involvement more frequent than right side involvement
bilateral involvement in 10% of cases
isolated malformation by can be associated with other malformations (e.g., scoliosis, vertebral segmentation abnormalities, spina bifida, hemivertebrae, klippel-feil sequence, clavicular abnormalities, rib segmentation abnormalities, neck and shoulder muscle hypoplasia)


HPO:

31
sprengel deformity:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM® 57 184400
MESH via Orphanet 45 C535802
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 71 C0152438
Orphanet 58 ORPHA3181
MedGen 41 C0152438

Summaries for Sprengel Deformity

GARD : 20 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. 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. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. 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.

MalaCards based summary : Sprengel Deformity, also known as high scapula, is related to klippel-feil syndrome and craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome. An important gene associated with Sprengel Deformity is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include bone, heart and colon, and related phenotypes are short neck and torticollis

Wikipedia : 73 Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital... more...

More information from OMIM: 184400

Related Diseases for Sprengel Deformity

Graphical network of the top 20 diseases related to Sprengel Deformity:



Diseases related to Sprengel Deformity

Symptoms & Phenotypes for Sprengel Deformity

Human phenotypes related to Sprengel Deformity:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000473
3 shoulder muscle hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008952
4 abnormal shoulder morphology 31 hallmark (90%) HP:0003043
5 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
6 scoliosis 31 HP:0002650
7 sprengel anomaly 31 HP:0000912
8 hemivertebrae 31 HP:0002937
9 spina bifida occulta 31 HP:0003298
10 rib segmentation abnormalities 31 HP:0006655
11 abnormality of the shoulder 58 Very frequent (99-80%)
12 abnormality of the shoulder girdle musculature 58 Very frequent (99-80%)
13 cervical segmentation defect 31 HP:0004632
14 neck muscle hypoplasia 31 HP:0008984

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
hemivertebrae
spina bifida occulta
omovertebral bone/band (25-50% patients)
cervical segmentation defects (klippel-feil sequence)

Muscle Soft Tissue:
shoulder muscle hypoplasia
neck muscle hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
rib segmentation abnormalities
congenital, upward displacement of the scapula (sprengel deformity)

Neurologic Peripheral Nervous System:
diastematomyelia (10% patients)

Clinical features from OMIM®:

184400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Sprengel Deformity

Search Clinical Trials , NIH Clinical Center for Sprengel Deformity

Genetic Tests for Sprengel Deformity

Anatomical Context for Sprengel Deformity

MalaCards organs/tissues related to Sprengel Deformity:

40
Bone, Heart, Colon, Kidney, Pituitary

Publications for Sprengel Deformity

Articles related to Sprengel Deformity:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Skeletal dysplasia in ancient Egypt. 61 57
19006207 2008
2
Neural crest origins of the neck and shoulder. 57
16034409 2005
3
Dominant transmission of Sprengel's shoulder and cleft palate. 57
7277418 1981
4
Dominant inheritance of Sprengel's deformity. 57
5116709 1971
5
[Familial Sprengel's disease]. 57
6078259 1967
6
Trapezius sparing minimally aggressive surgical technique for sprengel deformity: A case report. 61
33717937 2021
7
Letter regarding the article "two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability" (Isidor et al., 2015). 61
33636376 2021
8
Sprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report. 61
33220477 2021
9
Cervical myelopathy secondary to omovertebral bone in the pediatric patient with Sprengel deformity. 61
33530049 2021
10
Atlantoaxial dislocation with congenital "sandwich fusion" in the craniovertebral junction: a retrospective case series of 70 patients. 61
33287792 2020
11
Functional improvement in patients with Sprengel's deformity following Modified Green's procedure and simplified clavicle osteotomy-a study of forty cases. 61
33094403 2020
12
Modified Woodward Technique for Sprengel Deformity and a Modification of the Cavendish Classification. 61
32379247 2020
13
Sprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients. 61
32355141 2020
14
Sprengel Deformity in Biological Sisters. 61
32377613 2020
15
Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome. 61
31931249 2020
16
Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. 61
31363914 2019
17
Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism. 61
31723672 2019
18
Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report. 61
31667184 2019
19
Klippel-Feil Syndrome with Sprengel Deformity. 61
31558956 2019
20
The congenital undescended scapula syndrome: Sprengel and the cleithrum: a case series and hypothesis. 61
28964675 2018
21
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. 61
29492320 2018
22
Endoscopic Woodward procedure for Sprengel deformity: case report. 61
28079744 2017
23
A Wide Spectrum of Axial Mesodermal Dysplasia Complex With Rhombencephalic Anomaly: A Case Report. 61
26949683 2016
24
Omovertebral bone associated with Sprengel deformity presented with chronic cervical pain. 61
26477557 2016
25
Use of glenoid inclination angle for the assessment of unilateral congenital high scapula. 61
26313504 2016
26
Erratum to: Vertical scapular osteotomy in congenital high scapula. 61
26428547 2015
27
Vertical scapular osteotomy in congenital high scapula. 61
26281900 2015
28
A skeletal disorder in a dog resembling the Klippel-Feil Syndrome with Sprengel's Deformity in humans. 61
25196886 2015
29
Clinical analysis of 113 patients with Poland syndrome. 61
25633462 2015
30
Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability. 61
25463316 2015
31
Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective surgery technique. 61
25171572 2014
32
Klippel Feil Syndrome: A Rare Case Report. 61
27298984 2014
33
The rare sprengel deformity: our experience with three cases. 61
25379348 2014
34
Sprengel deformity: morphometric assessment and surgical treatment by the modified green procedure. 61
23774200 2014
35
Sprengel deformity presenting as a post-traumatic injury in an afghan boy: a case report. 61
24306024 2013
36
Mechanisms and risk factors of brachial plexus injury in the treatment of early-onset scoliosis with distraction-based growing implants. 61
24196473 2013
37
Surgical Excision of an Omovertebral Bone in an Adult with Untreated Sprengel Deformity: A Case Report. 61
29252246 2013
38
Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy presentation in old age. 61
24250706 2013
39
Correction in malrotation of the scapula and muscle transfer for the management of severe Sprengel deformity: static and dynamic evaluation using 3-dimensional computed tomography. 61
23389577 2013
40
Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. 61
22918513 2013
41
Congenital high scapula (Sprengel's deformity): four cases. 61
23084489 2012
42
Atlantoaxial rotatory subluxation after surgical relocation of Sprengel deformity: a case report. 61
21876455 2012
43
Bilateral congenital undescended scapula (sprengel deformity). 61
21904193 2012
44
Sprengel deformity: pathogenesis and management. 61
22382290 2012
45
Aplasia of the anterior arch of atlas associated with multiple congenital disorders: case report. 61
21712741 2011
46
Diagnosis and management of congenital rectourethral fistula in a child with long tubular duplication of the colon and Klippel-Feil syndrome. 61
22075355 2011
47
Woodward procedure improves shoulder function in Sprengel deformity. 61
21880195 2011
48
Sprengel deformity: magnetic resonance imaging findings in two pediatric cases. 61
21977386 2011
49
Unusual association of ankylosing spondylitis with congenital spinal deformity. 61
21102281 2010
50
Surgical correction of severe Sprengel deformity to allow greater postoperative range of shoulder abduction. 61
20733423 2010

Variations for Sprengel Deformity

Expression for Sprengel Deformity

Search GEO for disease gene expression data for Sprengel Deformity.

Pathways for Sprengel Deformity

GO Terms for Sprengel Deformity

Sources for Sprengel Deformity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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