MCID: SPR031
MIFTS: 28

Sprengel Deformity

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Sprengel Deformity

MalaCards integrated aliases for Sprengel Deformity:

Name: Sprengel Deformity 57 76 53 59
High Scapula 57 76 53 59
Congenital Upward Displacement of the Scapula 53
Congenital Elevation of the Scapula 53
Congenital Elevation of Scapula 29
Sprengel's Deformity 53
Sprengel's Shoulder 53

Characteristics:

OMIM:

57
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:

32
sprengel deformity:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 184400
Orphanet 59 ORPHA3181
ICD10 via Orphanet 34 Q74.0
MESH via Orphanet 45 C535802
UMLS via Orphanet 74 C0152438
MedGen 42 C0152438

Summaries for Sprengel Deformity

NIH Rare Diseases : 53 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 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome and klippel-feil syndrome. An important gene associated with Sprengel Deformity is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include bone, and related phenotypes are cleft palate and short neck

Wikipedia : 76 Sprengel\'s deformity (also known as high scapula or congenital high scapula) is a rare congenital... more...

Description from OMIM: 184400

Related Diseases for Sprengel Deformity

Diseases related to Sprengel Deformity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 11.0
2 klippel-feil syndrome 10.3
3 cervicitis 10.1
4 aging 9.9
5 alacrima, achalasia, and mental retardation syndrome 9.9
6 chronic cervicitis 9.9
7 diastematomyelia 9.8
8 brown-sequard syndrome 9.8

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



Diseases related to Sprengel Deformity

Symptoms & Phenotypes for Sprengel Deformity

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
spina bifida occulta
hemivertebrae
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

Human phenotypes related to Sprengel Deformity:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
4 abnormality of the shoulder 59 32 hallmark (90%) Very frequent (99-80%) HP:0003043
5 shoulder muscle hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008952
6 abnormality of the shoulder girdle musculature 59 Very frequent (99-80%)
7 sprengel anomaly 32 HP:0000912
8 scoliosis 32 HP:0002650
9 hemivertebrae 32 HP:0002937
10 spina bifida occulta 32 HP:0003298
11 cervical segmentation defect 32 HP:0004632
12 rib segmentation abnormalities 32 HP:0006655
13 neck muscle hypoplasia 32 HP:0008984

Drugs & Therapeutics for Sprengel Deformity

Search Clinical Trials , NIH Clinical Center for Sprengel Deformity

Genetic Tests for Sprengel Deformity

Genetic tests related to Sprengel Deformity:

# Genetic test Affiliating Genes
1 Congenital Elevation of Scapula 29

Anatomical Context for Sprengel Deformity

MalaCards organs/tissues related to Sprengel Deformity:

41
Bone

Publications for Sprengel Deformity

Articles related to Sprengel Deformity:

(show all 28)
# Title Authors Year
1
Klippel-Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review. ( 29492320 )
2018
2
Endoscopic Woodward procedure for Sprengel deformity: case report. ( 28079744 )
2017
3
Omovertebral bone associated with Sprengel deformity presented with chronic cervical pain. ( 26477557 )
2016
4
Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability. ( 25463316 )
2015
5
Sprengel deformity: morphometric assessment and surgical treatment by the modified green procedure. ( 23774200 )
2014
6
Severe Sprengel deformity associated with Klippel-Feil syndrome and a complex vascular abnormality that determined the corrective surgery technique. ( 25171572 )
2014
7
The rare sprengel deformity: our experience with three cases. ( 25379348 )
2014
8
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. ( 23389577 )
2013
9
Surgical Excision of an Omovertebral Bone in an Adult with Untreated Sprengel Deformity: A Case Report. ( 29252246 )
2013
10
Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy presentation in old age. ( 24250706 )
2013
11
Sprengel deformity presenting as a post-traumatic injury in an afghan boy: a case report. ( 24306024 )
2013
12
Sprengel deformity: pathogenesis and management. ( 22382290 )
2012
13
Bilateral congenital undescended scapula (sprengel deformity). ( 21904193 )
2012
14
Atlantoaxial rotatory subluxation after surgical relocation of Sprengel deformity: a case report. ( 21876455 )
2012
15
Woodward procedure improves shoulder function in Sprengel deformity. ( 21880195 )
2011
16
Sprengel deformity: magnetic resonance imaging findings in two pediatric cases. ( 21977386 )
2011
17
Omovertebral bone associated with Sprengel deformity and Klippel-Feil syndrome leading to cervical myelopathy. ( 20672958 )
2010
18
Surgical correction of severe Sprengel deformity to allow greater postoperative range of shoulder abduction. ( 20733423 )
2010
19
Previously unreported structure associated with Sprengel deformity. ( 19098640 )
2009
20
Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. ( 18024572 )
2008
21
Congenital undescended scapula (Sprengel deformity): a case study. ( 11877793 )
2002
22
The Sprengel deformity. Morphometric analysis using 3D-CT and its clinical relevance. ( 10963171 )
2000
23
Results of surgical treatment of Sprengel deformity by a modified Green's procedure. ( 10399122 )
1999
24
Ipsilateral omovertebral bones in the levator scapulae muscle and the rhomboid muscle in a Sprengel deformity: case report. ( 9586257 )
1998
25
Modified Woodward procedure for Sprengel deformity of the shoulder: long-term results. ( 8784708 )
1996
26
Klippel-Feil syndrome. An unusual association with Sprengel deformity, omovertebral bone, and other skeletal, hematologic, and respiratory disorders. A case report. ( 1652319 )
1991
27
Sprengel deformity. ( 2303505 )
1990
28
Accessory bone at the insertion of the levator scapulae muscle in a Sprengel deformity. ( 3998139 )
1985

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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