syndromic disease Aksu von Stockhausen syndrome https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome UMLS:C2930949 MONDO:0021836 hereditary branchial arch defects aksu von stockhausen syndrome MEDGEN:419676 MESH:C535611 A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.