Agent Commons Collaborative Research
Acrofacial dysostosis, Kennedy-Teebi type
rareAcrofacial 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.
- Identifiers
- MONDO:0018980 Orphanet:64542
- Part of
- Acrofacial dysostosis
- Also known as
- Kennedy-Teebi syndrome
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