Overview
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:494439. The condition combines problems with vision, hearing, physical growth, and the way the face looks, along with signs that the body ages faster than normal. The eyes are affected by a condition called retinitis pigmentosa, where the light-sensitive cells at the back of the eye slowly break down over time. This leads to gradual vision loss, often starting with difficulty seeing at night or in dim light, and later affecting side (peripheral) vision. Hearing loss is also a key feature, which can make communication and learning more difficult. People with this syndrome tend to be shorter than average and may have distinctive facial features that doctors can recognize. Because this syndrome is so rare, there is currently no cure. Treatment focuses on managing each symptom separately — for example, using hearing aids for hearing loss, low-vision aids for eye problems, and regular monitoring by a team of specialists. Early diagnosis is important so that support and therapies can be put in place as soon as possible to help with quality of life.
Also known as:
Key symptoms:
Gradual vision loss, especially in low light (retinitis pigmentosa)Tunnel vision or loss of side (peripheral) visionHearing lossShort stature (being much shorter than other children the same age)Facial features that look different from typical, such as unusual spacing of the eyes or shape of the noseSigns of premature aging, meaning the body shows aging changes earlier than expectedPossible intellectual or developmental delaysSensitivity to bright light (photophobia)Difficulty seeing colors in later stages
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis and identify the specific gene involved?,How quickly is the vision loss likely to progress, and what can we do to slow it down?,What type of hearing aids or devices would work best, and how often should hearing be re-tested?,Should we consider growth hormone therapy, and what are the risks and benefits?,What educational and developmental support should we put in place right away?,Are there any clinical trials or research studies we could participate in?,Which specialists should be part of our ongoing care team, and how often should we see each one?
Common questions about Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
What is Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome?
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome is a very rare genetic condition that affects multiple parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:494439. The condition combines problems with vision, hearing, physical growth, and the way the face looks, along with signs that the body ages faster than normal. The eyes are affected by a condition called retinitis pigmentosa, where the light-sensitive cells at the back of the eye slowly break down over time. This leads to gradual vision loss, often startin
How is Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome inherited?
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome typically begin?
Typical onset of Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.