Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. The disease is MONDO_0009191 (Lowry-Wood syndrome). Also known as: LWS, Lowry Wood syndrome, epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy, epiphyseal dysplasia-microcephaly-nystagmus syndrome.