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.
MONDO:0002254
syndromic disease
is_a
aksu von stockhausen syndrome
exact
hereditary branchial arch defects
related