Dominant omodysplasia—A sporadic case—A new case report and review of the literature

Abstract

Omodysplasia is an extremely rare skeletal dysplasia. Since introducing this phenotype as a new syndrome, ten cases of the autosomal dominant type of this disease have been reported. Here, we present a new patient and review published articles in this field to provide a clinical diagnostic criterion.

FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways

“…However, these studies are necessarily correlative. RS and omodysplasia (OMOD) are human syndromes that share a constellation of phenotypes predominantly characterized by shortened limbs and craniofacial defects, as well as variable defects in genitalia, and ear shape and position, among other abnormalities ( White et al, 2018 ; Zhang et al, 2022 ; Arabzadeh et al, 2022 ). Autosomal-dominant RS (AD-RS) is associated with heterozygous mutations in WNT5A and in the DVL family genes DVL1 , DVL2 and DVL3 , while recessive RS (R-RS) is associated with homozygous mutations in receptor tyrosine kinase-related 2 ( ROR2 ) and nucleoredoxin ( NXN ) ( Person et al, 2010 ; White et al, 2018 ; Zhang et al, 2022 ; Zhang et al, 2021 ; White et al, 2016 ).…”

“…Recessive OMOD (OMOD type 1/OMOD1) is associated with homozygous mutation of the glypican 6 ( GPC6 ) gene and differs from RS and dominant OMOD (OMOD type 2/OMOD2) in that it reliably correlates with short stature among other differential features ( Bayat et al, 2020 ; Arabzadeh et al, 2022 ). OMOD2 is associated with mutations in the FZD2 gene.…”