Craniosynostosis-intellectual disability-clefting syndrome
Craniosynostosis-intellectual disability-clefting syndrome
Definition
A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
Also known as Baraitser Rodeck garner syndrome, craniosynostosis-intellectual disability-clefting syndrome, craniosynostosis-mental retardation-clefting syndrome — per MONDO