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

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.

Also known as: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation, spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability itself.