Sprengel deformity

General Information (adopted from Orphanet):

Synonyms, Signs: high scapula
Number of Symptoms 14
OrphanetNr: 3181
OMIM Id: 184400
ICD-10: Q74.0
UMLs: C0152438
MeSH: C535802
MedDRA: 10010455
Snomed: 79120002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Thoracic malformation
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
(HPO:0004632) Cervical segmentation defect 2 / 7739
3
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
4
(HPO:0008952) Shoulder muscle hypoplasia 2 / 7739
5
(HPO:0003298) Spina bifida occulta 67 / 7739
6
(HPO:0002937) Hemivertebrae 41 / 7739
7
(HPO:0002650) Scoliosis 705 / 7739
8
(HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
9
(HPO:0006655) Rib segmentation abnormalities 2 / 7739
10
(HPO:0008984) Neck muscle hypoplasia 1 / 7739
11
(HPO:0100563) Diastomatomyelia 4 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Omovertebral bone/band (25-50% patients) 1 / 7739
14
(HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital upward displacement of the scapula almost always occurs sporadically. However, Gottesleben (1927) observed 9 cases in 6 sibships of 3 generations of a family with male-to-male transmission. Schwarzweller (1937) found 2 affected sibs in 2 out of ...