raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1251

Blepharofacioskeletal syndrome

inactive · moved to ORPHA:2353Schilbach-Rott syndrome

Synonyms: Richieri Costa-Guion Almeida-Rodini syndrome

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schilbach-Rott syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBlepharofacioskeletal syndromeRichieri Costa-Guion Almeida-Rodini syndrome
frSyndrome blépharo-facio-squelettiqueSyndrome de Richieri Costa-Guion Almeida-Rodini
deBlepharo-fazio-skelettales SyndromRichieri-Costa-Guion-Almeida Rodini-Syndrom
esSíndrome blefaro-facio-esqueléticoSíndrome de Richieri Costa-Guion Almeida-Rodini
itSindrome blefaro-facio-scheletricaSindrome di Richieri Costa-Guion Almeida-Rodini
nlBlefaro-facio-skeletaal syndroomRichieri Costa-Guion-Almeida-Rodinisyndroom
ptSíndrome blefaro-facio-esquelético
plZespół powiekowo-twarzowo szkieletowyZespół Richieri Costa, Guion Almeida i Rodini
csBlefarofacioskeletální syndromRichieri Costův-Guion Almeidaové-Rodiniové syndrom · Richieri Costa-Guion Almeida-Rodiniové syndrom
ukБлефарофаціоскелетний синдромСиндром Річчієрі Коста-Гійона Альмейда-Родіні
zh睑面骨骼综合征Richieri-Costa-Guion-Almeida-Rodini综合征
trBlefarofasiyoskeletal sendromRichieri Costa-Guion Almeida-Rodini sendromu
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card