Bencze syndrome
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
Bencze syndrome
- Bencze syndrome
- hemifacial hyperplasia-strabismus syndrome
gard_rare, ordo_malformation_syndrome
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
hemifacial hyperplasia with strabismus, hemifacial hyperplasia strabismus
MONDO:0007711
https://icd.codes/icd10cm/Q67.4
https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus