has material basis in germline mutation in DDR2 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondylometaepiphyseal_dysplasia_short_limb_hand_type_2 OMIM:271665 SMED short limb-hand type UMLS:C1849011 Smed short limb-abnormal calcification type MESH:C564794 spondylometaepiphyseal dysplasia short limb-hand type spondylometaepiphyseal dysplasia short limb-abnormal calcification type DOID:0112196 Orphanet:93358 MONDO:0010077 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. SMED type 2 MEDGEN:338595 spondyloepimetaphyseal dysplasia - short limb - abnormal calcification GARD:0010616 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia