Acrofacial dysostosis, Kennedy-Teebi type

From BugSigDB

Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
  • acrofacial dysostosis, Kennedy-Teebi type
  • Kennedy-Teebi syndrome