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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies – expanding the phenotypes associated with EFTUD2 mutations.

This is a rare genetic condition that OA can occur in. It won’t be relevant to very many people but it is included in case there are parents/ adults out there who have this and haven’t been diagnosed because it is so newly identified. The people with the syndrome have small heads, cup shaped ears and cheek deformities, heart defects and OA.

Londahl M, Irace AL, Kawai K, Dombrowski ND, Jennings R, Rahbar R. Prevalence of Laryngeal Cleft in Pediatric Patients With Esophageal Atresia. JAMA Otolaryngol Head Neck Surg. 2018;144(2):164-168