/spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

Rare Disease

MONDO:0010077

Also Known As

SMED short limb-hand typeSMED type 2Smed short limb-abnormal calcification typeSmed, short limb-abnormal calcification typeSmed, short limb-hand typeSmed, type 2Smed-SLSmed-SL/Acspondyloepimetaphyseal dysplasia - short limb - abnormal calcificationspondylometaepiphyseal dysplasia short limb-abnormal calcification typespondylometaepiphyseal dysplasia short limb-hand typespondylometaepiphyseal dysplasia, short limb-abnormal calcification typespondylometaepiphyseal dysplasia, short limb-hand type

Definition

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.