Multiple epiphyseal dysplasia, Lowry type

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.

Also known as: multiple epiphyseal dysplasia with Robin phenotype, epiphyseal dysplasia, multiple, with Robin phenotype, multiple epiphyseal dysplasia with ROBIN phenotype

0 clinical trials for this condition and its sub-types, 0 tagged with Multiple epiphyseal dysplasia, Lowry type itself.