acrofacial dysostosis, Kennedy-Teebi type
MONDO:0018980Mondo
Findings
No curated finding names acrofacial dysostosis, Kennedy-Teebi type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018980), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: acrofacial dysostosis, Kennedy-Teebi type
- Also called
- Kennedy-Teebi syndrome