raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2055

Growth deficiency-brachydactyly-dysmorphism syndrome

inactive · moved to ORPHA:26420014q22q23 microdeletion syndrome

Synonyms: Frias 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 14q22q23 microdeletion syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGrowth deficiency-brachydactyly-dysmorphism syndromeFrias syndrome
frSyndrome de petite taille-brachydactylie-dysmorphieSyndrome de Frias
deWachstumsstörungen - Brachydaktylie - DysmorphienFrias-Syndrom
esSíndrome de problemas de crecimiento-braquidactilia-dismorfiaSíndrome de Frias
itSindrome ritardo della crescita, brachidattilia, dismorfismiSindrome di Frias
nlGroeiachterstand - brachydactylie - dysmorfie-syndroomSyndroom van Frias
ptSíndrome de atraso de crescimento-braquidactilia-dismorfiaSíndrome Frias
plNiedobór wzrostu - brachydaktylia - dysmorfiaZespół Friasa
csSyndrom zahrnující růstový deficit, brachydaktylii a dysmorfismusFriasův syndrom
ukСиндром дефіциту росту-брахідактилії-дисморфізмуСиндром Фріаса
zh发育不足-短指(趾)-畸形综合征Frias综合征
trBüyüme eksikliği-brakidaktili-dismorfizm sendromuFrias 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