Living with Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
A rare genetic syndrome with developmental delay, short height, distinct facial features, hearing loss, and retina changes.
Understanding Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
It includes developmental delay with mild intellectual disability, short stature, and distinct facial features. Hearing loss and retinitis pigmentosa (a retina condition) begin at different ages. Other features can include other eye differences, finger differences, low thyroid function, and signs of early aging. Brain imaging shows cerebellar atrophy and delayed myelination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Hearing impairment
- Glaucoma
- Nearsightedness (myopia)
- Cross-eyed (strabismus)
- Cerebellum shrinkage (cerebellar atrophy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Consider genetic testing
Changes in EXOSC2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the EXOSC2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome; short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome.
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