A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia
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.
Fields of Study & Subjects
Craniofacial Disorders and Treatments
Cleft Lip and Palate Research
Genomics and Rare Diseases
Publication details
- Journal / source
- The Cleft Palate-Craniofacial Journal
- Volume
- 63
- Issue
- 11
- Pages
- 3995–3999
- Publication date
- 25 February 2026
- Language
- EN