Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs short and broad fingers with short hands narrowed chest with rib abnormalities and pectus excavatum abnormal chondral calcifications (incl. larynx trachea and costal cartilages) and facial dysmorphism (frontal bossing hypertelorism prominent eyes short flat nose wide nostrils high-arched palate long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome?
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