Disease Directory Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Connective Tissue

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Type

Malformation syndrome

Gene

PISD

About Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome is a rare disease catalogued by Orphanet (ORPHA:589442). It is associated with the PISD 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 stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome trials.

Search ClinicalTrials.gov for "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" or filter by Orphanet code ORPHA:589442 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

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Orphanet

European reference resource for rare diseases (ORPHA:589442)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome. Updated daily.