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Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
ORPHA:93346Classification level: Disorder
The syndrome has been described in less than 30 patients so far.
Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.
This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).
It is inherited in an autosomal dominant manner.
- Clinical genetics review
- English (2019)