raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:163673

Spondyloepiphyseal dysplasia, Byers type

inactive · moved to ORPHA:93284Spondyloepiphyseal dysplasia tarda

Synonyms: Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Type
Disease
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSpondyloepiphyseal dysplasia, Byers typeSpondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome
frDysplasie spondylo-épiphysaire type ByersSyndrome de dysplasie spondylo-épiphysaire-dystrophie cornéenne ponctuée
deDysplasie, spondyloepiphysäre, Typ Byers
esDisplasia espondiloepifisaria tipo ByersDisplasia espondiloepifisaria-distrofia corneal punteada · Displasia espondiloepifisiaria-distrofia puntiforme de la córnea
itDisplasia spondiloepifisaria, tipo Byers
nlSpondylo-epifysaire dysplasie, Byers-typeSpondylo-epifysaire dysplasie - puntvormige corneadystrofie-syndroom
ptDisplasia espondiloepifisária, tipo Byers
plDysplazja kręgowo-nasadowa, typ ByersaDysplazja kręgowo-nasadowa - punktowa dystrofia rogówki
csSpondyloepifyzární dysplázie, Byersův typSyndrom zahrnující spondyloepifyzární dysplázii a dystrophia corneae punctata
ukСпондилоепіфізарна дисплазія, тип БайєрсаСиндром спондилоепіфізарної дисплазії - точкової дистрофії рогівки
zhByers 型脊柱骨骺发育不良脊柱骨骺发育不良-点状角膜营养不良综合征
trSpondiloepifizyal displazi, Byers tipiSpondiloepifizeal displazi-punktata korneal distrofi sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM183850Evalidated
UMLSC1866727Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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