Sprengel's deformity

Sprengel's deformity
Other names	Sprengel deformity, Sprengel's shoulder, Sprengel shoulder, high scapula

Sprengel's deformity, showing a higher right-sided shoulder blade
Specialty	Medical genetics
Types	Muscular forms

Sprengel's deformity (also known as high scapula, scapular hypoplasia, or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. Majority of the cases are sporadic with very few having autosomal dominant inheritance.^[1]

The deformity is associated with the following conditions:-

Klippel–Feil syndrome (most common)
congenital scoliosis,
hemivertebrae,
cervical ribs, ⁣
fused ribs,
omovertebral connections which are fibrous, cartilaginous or bony connection between the superomedial angle of scapula with the spinous process, lamina or transverse process of cervical spine
spina bifida,
cleft palate.

The left shoulder is more commonly affected, but it can occur bilaterally as well.^[1]

About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.

Presentation

The scapula is small and rotated so that its inferior edge points toward the spine. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as an omovertebral bone.^{[citation needed]}

There is a high correlation between Sprengel's deformity and Klippel–Feil syndrome.^{[citation needed]}

Diagnosis

Diagnosis is clinical and can be confirmed by instrumental diagnostics like conventional radiography and CT scan. It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel–Feil syndrome).

Eponym

It is named for German surgeon Otto Sprengel, who described it in 1891.^[2]^[3]

References

^ ^a ^b "Sprengel deformity | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-05-04.
^ synd/2450 at Who Named It?
^ O. K. Sprengel. Die angeborene Verschiebung des Schulterblattes nach oben. Archiv für klinische Chirurgie, Berlin, 1891, 42: 545-549.

External links

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

Appendicular
limb / dysmelia

Arms

clavicle / shoulder	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip	Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara
knee	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb
reduction deficits / limb	Acheiropodia Ectromelia Phocomelia Amelia Hemimelia
multiple joints	Arthrogryposis Larsen syndrome RAPADILINO syndrome

Axial

Skull and face

Craniosynostosis	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Oto-palato-digital syndrome Treacher Collins syndrome
other	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum
other:	Poland syndrome

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