Aksu von Stockhausen syndrome
MONDO:0021836Mondo
Findings
No curated finding names Aksu von Stockhausen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0021836), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of