metaphyseal acroscyphodysplasia https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia https://www.malacards.org/card/metaphyseal_acroscyphodysplasia OMIM:250215 wedge-shaped epiphyses of the knees with mental retardation and short stature Bellini syndrome intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. MEDGEN:344453 MESH:C537350 Bellini Chiumello Rimoldi syndrome icd11.foundation:1994645064 metaphyseal acroscyphodysplasia wedge-shaped epiphyses of the knees with intellectual disability and short stature MONDO:0009592 wedge-shaped epiphyses of knees UMLS:C1855243 GARD:0003519 Orphanet:1240 skeletal dysplasia