Spondyloepiphyseal Dysplasia, Nishimura Type

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.

Epidemiology

The syndrome has been described in four Japanese sibs (three brothers and one sister born to nonconsanguineous parents).

Clinical description

Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood.

Genetic counseling

Autosomal recessive inheritance has been suggested.