raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:476403

Hypercontractile muscle stiffness syndrome

Type
Clinical group
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHypercontractile muscle stiffness syndrome
frSyndrome de rigidité musculaire hypercontractile
deHyperkontraktile Muskelsteifheit-Syndrom
esSíndrome de rigidez muscular hipercontráctil
itSindrome ipoercontratile da rigidità muscolare
nlHypercontractiele spierstijfheid-syndroom
ptSíndrome de rigidez muscular hipercontrátil
plZespół sztywności mięśniowej z hiperkurczliwością
csSyndrom hyperkontraktilní svalové ztuhlosti
ukСиндром гіперскоротливої ригідності мязів
zh肌肉收缩高度僵直综合征
trHiperkontraktil kas sertliği sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO18779Evalidated
UMLSC5681263Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

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