Cleft Palate Craniofac J
. 2026 Feb 25:10556656261424482.
doi: 10.1177/10556656261424482. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/41739502/
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia
Katerina L Aris 1, Richard E Kirschner 2 3, Emily Hrach 4, Brandon S Stone 4 5
Affiliations Expand
- PMID: 41739502
- DOI: 10.1177/10556656261424482
Abstract
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare craniofacial syndrome due to pathogenic variants in EFTUD2. Affected patients may present with cleft palate, dysmorphic craniofacial features, short stature, microcephaly, developmental delay/intellectual disability, and variable congenital anomalies. Gastrointestinal anomalies include esophageal atresia and tracheoesophageal fistula. Congenital diaphragmatic hernia (CDH) has not been previously reported. Here, we present a novel case of MFDM with CDH in a late preterm female with multiple congenital malformations observed prenatally. Postnatal genetic testing was diagnostic for a heterozygous de novo pathogenic variant in EFTUD2, consistent with a diagnosis of MFDM.
Keywords: craniofacial morphology; craniofacial surgery; genetics; pediatrics; syndrome.
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