postaxial acrofacial dysostosis
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.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018237
acrofacial dysostosis
is_a
GWAFD
related
Genee-Wiedemann acrofacial dysostosis
related
Miller Syndrome
exact
Miller syndrome
exact
POADS
exact
POADS syndrome
related
Wildervanck-Smith syndrome
related
postaxial acrodysostosis
exact
postaxial acrofacial dysostosis
exact
postaxial acrofacial dysostosis (POADS) syndrome
related
SPAC57A10.12c