Rare condition

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

ORPHA:508498 ↗Gene PUF60Malformation syndrome

0

studies recruiting now

as of 7 Sept 2026

0

studies registered in total

as of 7 Sept 2026

0

countries with a recruiting site

as of 7 Sept 2026

None

recruiting study posted to date

among recruiting studies

Recruiting trials

No registered studies found for Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome.

ClinicalTrials.gov has no study listed under this name as of 7 Sept 2026. That can change, and there are other routes worth knowing about.

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Patient organisations

We do not yet list a dedicated organisation for this condition. The directories below are the best route.

About Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

RareTrial does not yet hold a plain-language description of this condition. The most reliable starting point is Orphanet’s expert page, which lists specialist centres, registries and patient organisations, and the gene involved (PUF60).

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).