Alternative titles; symbols
SNOMEDCT: 79120002; ICD10CM: Q74.0; ICD9CM: 755.52; ORPHA: 3181; MONDO: 0008482;
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 9 families. In one of these the father had mild abnormality. Aubert and Arroyo (1967) observed the disorder in father and daughter. In another family reported by Perls (cited by Engel, 1943), a father and 2 sons had unilateral elevated scapulae. Wilson et al. (1971) reported a family in which affected persons were thought to have occurred in multiple sibships of 5 successive generations with instances of male-to-male transmission. Thus, there is probably a simple mendelian form of Sprengel deformity, which represents a minority of cases. Hodgson and Chiu (1981) described a family with transmission of Sprengel deformity with cleft palate through 3 successive generations (grandmother, son, and granddaughter). The great-grandfather had Sprengel deformity only. Some of the affected persons showed Klippel-Feil syndrome (118100).
Using Cre-recombinase-mediated transgenesis, Matsuoka et al. (2005) mapped a cryptic neural crest-mesoderm boundary inside the neck and shoulder girdle skeleton in which cellular distributions of neural crest and mesoderm correspond precisely to muscle attachment scaffolds to the shoulder girdle, challenging the 'ossification model' and corroborating the 'scaffold model' of vertebrate neck and shoulder evolution. The skeleton that Matsuoka et al. (2005) identified as neural crest-derived is specifically affected in human Klippel-Feil syndrome, Sprengel deformity, and Arnold-Chiari I/II malformation (207950). In Sprengel deformity a large fibrous, sometimes endochondral, so-called omo-vertebral bone replaces all dorsal neural crest-derived endochondral elements of the occipital region, cervical spinous processes, spina scapulae, and trapezius inside the post-otic neural crest (PONC) trapezius territory. On this basis, Matsuoka et al. (2005) identified Sprengel deformity, which is one of the phenotypic facets of Klippel-Feil syndrome, as primarily affecting PONC fate choices and not cervical segmentation as had been thought.
Kozma (2008) provided a detailed historical review of skeletal dysplasias, in ancient Egypt, with a presumed example of Sprengel deformity.
Aubert, L., Arroyo, H. Maladie de Sprengel familiale. Marseille Med. 104: 287-290, 1967. [PubMed: 6078259]
Engel, D. The etiology of the undescended scapula and related syndromes. J. Bone Joint Surg. 25: 613-625, 1943.
Gottesleben, A. Ueber den doppelseitigen und einseitigen Schulterblatthochstand. Arch. Klin. Chir. 144: 723-731, 1927.
Hodgson, S. V., Chiu, D. C. Dominant transmission of Sprengel's shoulder and cleft palate. J. Med. Genet. 18: 263-265, 1981. [PubMed: 7277418] [Full Text: https://doi.org/10.1136/jmg.18.4.263]
Kozma, C. Skeletal dysplasia in ancient Egypt. Am. J. Med. Genet. 146A: 3104-3112, 2008. [PubMed: 19006207] [Full Text: https://doi.org/10.1002/ajmg.a.32501]
Matsuoka, T., Ahlberg, P. E., Kessaris, N., Iannarelli, P., Dennehy, U., Richardson, W. D., McMahon, A. P., Koentges, G. Neural crest origins of the neck and shoulder. Nature 436: 347-355, 2005. [PubMed: 16034409] [Full Text: https://doi.org/10.1038/nature03837]
Schwarzweller, F. Der angeborene Schulterblatthochstand der Wirbelsaeule. (Eine erbbiologische Untersuchung ueber die Entstehung des angeborenen Schulterblatthochstandes). Z. Menschl. Vererb. Konstitutionsl. 20: 341-349, 1937.
Wilson, M. G., Mikity, V. G., Shinno, N. W. Dominant inheritance of Sprengel's deformity. J. Pediat. 79: 818-821, 1971. [PubMed: 5116709] [Full Text: https://doi.org/10.1016/s0022-3476(71)80400-6]