multiple epiphyseal dysplasia, Lowry type https://www.malacards.org/card/multiple_epiphyseal_dysplasia_with_robin_phenotype OMIM:601560 multiple epiphyseal dysplasia with Robin phenotype SCTID:768935003 UMLS:C1832112 MESH:C563291 Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. MONDO:0011109 GARD:0017013 MEDGEN:321890 multiple epiphyseal dysplasia