Disease Directory Short rib-polydactyly syndrome, Saldino-Noonan type
Rare Disease

Short rib-polydactyly syndrome, Saldino-Noonan type

Type

Malformation syndrome

Gene

DYNC2H1

About Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome, Saldino-Noonan type is a rare disease catalogued by Orphanet (ORPHA:93270). It is associated with the DYNC2H1 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Short rib-polydactyly syndrome, Saldino-Noonan type trials.

Search ClinicalTrials.gov for "Short rib-polydactyly syndrome, Saldino-Noonan type" or filter by Orphanet code ORPHA:93270 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:93270)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Short rib-polydactyly syndrome, Saldino-Noonan type trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Short rib-polydactyly syndrome, Saldino-Noonan type. Updated daily.