/Lowry-Wood syndrome

Lowry-Wood syndrome

Rare Disease

MONDO:0009191

Also Known As

LWSLowry Wood syndromeLowry-Wood syndromeepiphyseal dysplasia, multiple, with microcephaly and retinal dystrophyepiphyseal dysplasia-microcephaly-nystagmus syndromeepiphyseal dysplasia, microcephaly and nystagmus

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.