Acrofacial dysostosis, Kennedy-Teebi type
Synonyms: Kennedy-Teebi syndrome
A rare 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Acrofacial dysostosis, Kennedy-Teebi type?
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