Aksu von Stockhausen syndrome

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.

Also known as: aksu von stockhausen syndrome, hereditary branchial arch defects

0 clinical trials for this condition and its sub-types, 0 tagged with Aksu von Stockhausen syndrome itself.