Lowry-Wood syndrome
Lowry-Wood syndrome
Definition
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.
Also known as epiphyseal dysplasia-microcephaly-nystagmus syndrome, epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy, Lowry Wood syndrome, Lowry-Wood syndrome, LWS — per MONDO