/spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

Rare Disease

MONDO:0011261

Also Known As

spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disabilityspondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardationspondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome

Definition

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.