Overview
Pilodental dysplasia-refractive errors syndrome is an extremely rare genetic condition that affects the hair, teeth, and eyes. The name reflects its three main features: 'pilo' refers to hair abnormalities, 'dental' refers to tooth problems, and 'refractive errors' refers to vision issues. People with this syndrome typically have sparse or thin hair (hypotrichosis), abnormalities in the development of their teeth (such as missing teeth, small teeth, or teeth that are shaped differently than usual), and problems with how the eyes focus light, leading to nearsightedness, farsightedness, or other vision difficulties. This condition is classified under ectodermal dysplasias, which are a group of disorders that affect structures derived from the outer layer of the developing embryo, including hair, teeth, nails, and sweat glands. Because this syndrome is so rare, there are very few reported cases in the medical literature, and our understanding of it is still limited. There is currently no cure for this condition. Treatment focuses on managing each symptom individually — for example, dental work to address tooth abnormalities, corrective lenses or other interventions for vision problems, and cosmetic options for hair concerns. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Thin or sparse hair on the scalpMissing teeth or fewer teeth than normalAbnormally shaped or small teethNearsightedness or farsightednessOther vision focusing problemsFine or brittle hairDelayed eruption of teethPossible eyebrow or eyelash thinning
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 Pilodental dysplasia-refractive errors syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pilodental dysplasia-refractive errors 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 Pilodental dysplasia-refractive errors 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 specific dental treatments will my child need, and when should they start?,How often should my child have eye exams to monitor their vision?,Is genetic testing recommended for our family, and what could it tell us?,Are there other features of this syndrome we should watch for as my child grows?,What are the options for improving hair appearance?,Should we see a genetic counselor to understand the chances of this condition in future children?,Are there any clinical trials or research studies we could participate in?
Common questions about Pilodental dysplasia-refractive errors syndrome
What is Pilodental dysplasia-refractive errors syndrome?
Pilodental dysplasia-refractive errors syndrome is an extremely rare genetic condition that affects the hair, teeth, and eyes. The name reflects its three main features: 'pilo' refers to hair abnormalities, 'dental' refers to tooth problems, and 'refractive errors' refers to vision issues. People with this syndrome typically have sparse or thin hair (hypotrichosis), abnormalities in the development of their teeth (such as missing teeth, small teeth, or teeth that are shaped differently than usual), and problems with how the eyes focus light, leading to nearsightedness, farsightedness, or other
How is Pilodental dysplasia-refractive errors syndrome inherited?
Pilodental dysplasia-refractive errors syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pilodental dysplasia-refractive errors syndrome typically begin?
Typical onset of Pilodental dysplasia-refractive errors syndrome is childhood. Age of onset can vary across affected individuals.