Disease association ontology term - MONDO:0009903 - postaxial acrofacial dysostosis

Term summary

ID

MONDO:0009903

Name

postaxial acrofacial dysostosis

Ontology or CV name

Disease association

Definition

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized 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.

Parents

• excluded_subClassOf obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a acrofacial dysostosis

Annotation