has material basis in germline mutation in CCN2 kyphomelic dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia https://www.malacards.org/card/kyphomelic_dysplasia MESH:C538128 UMLS:C0432239 OMIM:211350 icd11.foundation:268821879 bowing, congenital, with short bones Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. MONDO:0008881 Orphanet:1801 ICD9:733.29 GARD:0010149 MEDGEN:140930 kyphomelic dysplasia DOID:0061155 SCTID:254096001 congenital bowing with short bones bent bone dysplasia