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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome?
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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