Phenotypes associated with the disease Sprengel deformity (OMIM:184400):
- Cervical segmentation defect (HP:0004632): An abnormality related to a defect of vertebral separation of cervical vertebrae during development. Evidence: IEA. (OMIM:184400)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:184400)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: IEA. (OMIM:184400)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:184400)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: IEA. (OMIM:184400)
- Shoulder muscle hypoplasia (HP:0008952): Underdevelopment of muscles of the shoulder. Evidence: IEA. (OMIM:184400)
- Neck muscle hypoplasia (HP:0008984): Underdevelopment of muscles of the neck. Evidence: IEA. (OMIM:184400)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:184400)
- Rib segmentation abnormalities (HP:0006655). Evidence: IEA. (OMIM:184400)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:184400)