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. [ PMID:6468450 https://orcid.org/0000-0001-5208-3432 ]
Term info
- GARD:0000579 (MONDO:equivalentTo)
- MESH:C535611 (MONDO:equivalentTo)
gard_rare, n_of_one
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.
http://identifiers.org/mesh/C535611
aksu von stockhausen syndrome
hereditary branchial arch defects
MONDO:0021836
https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome