Postaxial acrofacial dysostosis (Q86227): Difference between revisions
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A disostose acrofacial pós-axial é um tipo de disostose acrofacial, um grupo heterogêneo de transtornos que combina defeitos de membros e de desenvolvimento mandibular/facial. A disostose acrofacial pós-axial é caracterizada por hipoplasia mandibular e malar, orelhas pequenas em forma de copo, ectrópio palpebral inferior e deficiências pós-axiais simétricas de membros com ausência do quinto raio digital e hipoplasia ulnar. | |||
| description / en | description / en | ||
Postaxial acrofacial dysostosis is a type of acrofacial dysostoses, a heterogeneous group of disorders combining defects of limb and mandibular/facial development. Postaxial acrofacial dysostosis is characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. | |||
Revision as of 11:35, 15 August 2026
Postaxial acrofacial dysostosis is a type of acrofacial dysostoses, a heterogeneous group of disorders combining defects of limb and mandibular/facial development. Postaxial acrofacial dysostosis is characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_70602060 |
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| English | Postaxial acrofacial dysostosis |
Postaxial acrofacial dysostosis is a type of acrofacial dysostoses, a heterogeneous group of disorders combining defects of limb and mandibular/facial development. Postaxial acrofacial dysostosis is characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. |
