Terminology Service for NFDI4Health

Bencze syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007711


Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. [ ]

Term info

Label

Bencze syndrome

Synonyms
  • Bencze syndrome
  • hemifacial hyperplasia-strabismus syndrome
database cross reference
Subsets

gard_rare, ordo_malformation_syndrome

exactMatch

http://identifiers.org/snomedct/733046006, https://omim.org/entry/141350, http://linkedlifedata.com/resource/umls/id/C1841640, http://purl.obolibrary.org/obo/Orphanet_1241, http://identifiers.org/mesh/C564199

has related synonym

hemifacial hyperplasia with strabismus, hemifacial hyperplasia strabismus

id

MONDO:0007711

narrowMatch

https://icd.codes/icd10cm/Q67.4

see also

https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus