Acrofacial dysostosis, Kennedy-Teebi type

Orpha code: 64542OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Kennedy-Teebi syndrome
Zespół Kennedy'ego i Teebiego
ORPHA code
64542
OMIM code
-
ICD10 code
Q75.4
ICD11 code
-

No additional description.

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