Monilethrix

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ORPHA:573OMIM:158000Q84.1
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Overview

Monilethrix is a rare inherited hair disorder that causes fragile, beaded-looking hair that breaks easily and is often very short. The name comes from the Latin word 'monile' meaning necklace, because the hair shaft has a distinctive pattern of regular swellings and narrowings that look like a string of beads when viewed under a microscope. It is also sometimes called 'beaded hair syndrome.' The condition mainly affects the scalp hair, but eyebrows, eyelashes, and body hair can also be involved. Hair is usually normal at birth but is replaced within the first few months of life by the abnormal beaded hair, which breaks off close to the scalp and causes patchy hair loss (alopecia). The skin around the hair follicles on the back of the scalp and neck often looks rough and bumpy, a condition called follicular keratosis. Monilethrix is caused by changes (mutations) in genes that make proteins called keratins, which are the building blocks of hair. The severity of the condition can vary quite a bit, even within the same family. Some people have very sparse hair across the whole scalp, while others may only have mild breakage in certain areas. The condition tends to improve naturally during puberty or pregnancy in some people, and it can also worsen during illness or stress. There is currently no cure for monilethrix. Treatment focuses on protecting the hair from further damage, using gentle hair care routines, and in some cases trying topical or oral medications to encourage hair growth. The condition is not life-threatening and does not affect overall health or lifespan, but it can have a significant emotional and social impact, especially in children and teenagers.

Also known as:

Key symptoms:

Fragile hair that breaks easily and stays very shortBeaded or bumpy appearance of individual hair strandsPatchy or widespread hair loss on the scalpRough, bumpy skin around hair follicles, especially on the back of the scalp and neckSparse or absent eyebrows and eyelashesSparse body hairHair that looks dull or lacks shineWorsening of hair loss during illness, stress, or hormonal changesImprovement of hair growth during puberty or pregnancy in some peopleScalp irritation or mild itching in affected areas

Clinical phenotype terms (14)— hover any for plain English
Slow-growing hairHP:0002217Patchy alopeciaHP:0002232Brittle hairHP:0002299Follicular hyperkeratosisHP:0007502SchizophreniaHP:0100753
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Monilethrix.

View clinical trials →

No actively recruiting trials found for Monilethrix at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Monilethrix community →

No specialists are currently listed for Monilethrix.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Monilethrix.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Monilethrix

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.Which genes should be tested to confirm my diagnosis, and what does a positive result mean for my family members?,What hair care routine do you recommend to reduce breakage and protect my hair?,Is topical minoxidil or any other medication appropriate for my situation?,Is there any chance my hair will improve on its own over time?,Are there any clinical trials or new treatments being studied for monilethrix?,Should my children or siblings be tested or examined for this condition?,Can you refer me to a counselor or support group to help with the emotional side of living with hair loss?

Common questions about Monilethrix

What is Monilethrix?

Monilethrix is a rare inherited hair disorder that causes fragile, beaded-looking hair that breaks easily and is often very short. The name comes from the Latin word 'monile' meaning necklace, because the hair shaft has a distinctive pattern of regular swellings and narrowings that look like a string of beads when viewed under a microscope. It is also sometimes called 'beaded hair syndrome.' The condition mainly affects the scalp hair, but eyebrows, eyelashes, and body hair can also be involved. Hair is usually normal at birth but is replaced within the first few months of life by the abnormal

At what age does Monilethrix typically begin?

Typical onset of Monilethrix is infantile. Age of onset can vary across affected individuals.