Autosomal recessive acrofacial dysostosis (Q86235): Difference between revisions
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A disostose acrofacial autossômica recessiva é uma forma de disostose acrofacial caracterizada pela presença das seguintes manifestações clínicas: microcefalia, fenda labial e palatina, nariz peculiar em forma de bico, blefarofimose, microtia, envolvimento simétrico dos polegares, háluces e atraso no desenvolvimento. | |||
| description / en | description / en | ||
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. | |||
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 |
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| default for all languages | ID_921104481 |
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| 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. |
