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Aksu von Stockhausen syndrome

^ http://purl.obolibrary.org/obo/MONDO_0021836


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

database cross reference
  • GARD:0000579 (MONDO:equivalentTo)
  • MESH:C535611 (MONDO:equivalentTo)
Subsets

gard_rare, n_of_one

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.

exactMatch

http://identifiers.org/mesh/C535611

has exact synonym

aksu von stockhausen syndrome

has related synonym

hereditary branchial arch defects

id

MONDO:0021836

seeAlso

https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome

Term relations

Subclass of: