Autosomal recessive acrofacial dysostosis (Q86235): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/921104481 / rank | |||
Normal rank | |||
Revision as of 11:36, 15 August 2026
Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_921104481 |
||
| English | Autosomal recessive acrofacial dysostosis |
Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay. |
