spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
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SMED short limb-hand type
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SMED type 2
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Smed short limb-abnormal calcification type
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spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
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spondylometaepiphyseal dysplasia short limb-abnormal calcification type
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spondylometaepiphyseal dysplasia short limb-hand type
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