raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:157788

Hypospadias-hypertelorism-coloboma and deafness syndrome

inactive · moved to ORPHA:1299Branchioskeletogenital syndrome

Synonyms: Hypospadias-hypertelorism-coloboma and hearing loss 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 Branchioskeletogenital syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHypospadias-hypertelorism-coloboma and deafness syndromeHypospadias-hypertelorism-coloboma and hearing loss syndrome
frSyndrome d'hypospadias-hypertélorisme-colobome et surdité
deHypospadie - Hypertelorismus - Kolobom - Schwerhörigkeit
esSíndrome de hipospadias-hipertelorismo-coloboma y sorderaSíndrome de hipospadias-hipertelorismo-coloboma e hipoacusia
itIpospadia - ipertelorismo - coloboma - sordità
nlHypospadie - hypertelorisme - coloboom en doofheid-syndroom
ptHipóspadias - hipertelorismo - coloboma - surdez
plSpodziectwo - hiperteloryzm - szczelina i głuchota= en
csSyndrom zahrnující hypospadii, hypertelorismus, kolobom a hluchotu= en
ukСиндром гіпоспадії-гіпертелоризму-колобоми-глухотиСиндром гіпоспадії-гіпертелоризму-колобоми та втрати слуху
zh尿道下裂-眼距过宽-眼缺损-耳聋综合征尿道下裂-尿道增生症-尿道缺陷症与听力损失综合征
trHipospadias-hipertelorizm-kolobom ve sağırlık sendromuHipospadias-hipertelorizm-kolobom ve işitme kaybı sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC1863870Evalidated

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