Lowry-Wood syndrome

MONDO:0009191

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: LWS, Lowry Wood syndrome, Lowry-Wood syndrome, epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy, epiphyseal dysplasia-microcephaly-nystagmus syndrome, epiphyseal dysplasia, microcephaly and nystagmus

36 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by