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64542 Acrofacial dysostosis, Kennedy-Teebi type

definition

Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis (see this term) due to the presence of manifestations not usually seen in Nager syndrome (NS; see this term) 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.