Lowry Wood syndrome

Alternate names[edit | edit source]

Epiphyseal dysplasia, microcephaly and nystagmus; LWS

Definition[edit | edit source]

A rare disorder 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.

NIH genetic and rare disease info[edit source]

NIH info on Lowry Wood syndrome

Lowry Wood syndrome is a rare disease.

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