Overview
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome is an extremely rare genetic condition that affects the hair, facial features, and skin. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1409) and was first described in a small number of families. People with this condition are typically born with woolly hair, which means the hair is tightly curled, dry, and difficult to manage. In addition, they have hypotrichosis, meaning the hair is unusually sparse or thin across the scalp and sometimes the body. Distinctive facial features include a lower lip that turns outward (everted) and ears that stick out more than usual (outstanding or prominent ears). Some affected individuals may also have mild skin abnormalities. Because this syndrome is so rare, the treatment landscape is limited and mainly focuses on managing symptoms rather than curing the underlying condition. Hair care strategies, cosmetic approaches, and supportive dermatological care are the main options available. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk. There are currently no specific medications or targeted therapies approved for this condition. Patients benefit from a multidisciplinary team that may include dermatologists, geneticists, and ear-nose-throat specialists to address the various features of the syndrome.
Also known as:
Key symptoms:
Tightly curled or woolly hair from birthThin or sparse hair on the scalpLower lip that turns outwardEars that stick out prominentlyDry or brittle hair textureSparse eyebrows or eyelashesSparse body hairMild skin dryness or texture changes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome.
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Specialists
View all specialists →No specialists are currently listed for Woolly hair-hypotrichosis-everted lower lip-outstanding ears 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 Woolly hair-hypotrichosis-everted lower lip-outstanding ears 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 testing is available to confirm this diagnosis?,Are there any other health problems associated with this syndrome that we should screen for?,What hair care products or routines do you recommend?,At what age could cosmetic procedures like ear surgery be considered?,Is there a risk of passing this condition to future children, and what are the chances?,Can you refer us to a genetic counselor to discuss family planning?,Are there any support groups or resources for families with similar rare conditions?
Common questions about Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
What is Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome?
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome is an extremely rare genetic condition that affects the hair, facial features, and skin. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1409) and was first described in a small number of families. People with this condition are typically born with woolly hair, which means the hair is tightly curled, dry, and difficult to manage. In addition, they have hypotrichosis, meaning the hair is unusually sparse or thin across the scalp and sometimes the body. Distinctive facial features include a lower lip t
How is Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome inherited?
Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome typically begin?
Typical onset of Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome is neonatal. Age of onset can vary across affected individuals.