Crandall syndrome

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Overview

Crandall syndrome is a very rare inherited condition that affects hair growth, hearing, and hormone production in males. It is sometimes considered a variant of a related condition called Björnstad syndrome. The main features include pili torti (hair that is twisted and brittle, leading to sparse or patchy hair loss), sensorineural hearing loss (damage to the inner ear or hearing nerve that makes it hard to hear), and hypogonadism in males (meaning the testes do not produce enough hormones, which can affect puberty and fertility). The hair abnormality is usually noticeable in early childhood, when parents may notice that a child's hair breaks easily and looks dull or twisted under a microscope. Hearing loss may also be identified in early childhood through routine hearing tests. In boys, the hormonal problem may become more obvious around the time of puberty, when normal development does not occur as expected. There is no cure for Crandall syndrome. Treatment focuses on managing each symptom separately, such as hearing aids for hearing loss and hormone replacement therapy for boys who do not go through normal puberty. Because this condition is so rare, most of what is known comes from a small number of reported families.

Also known as:

Key symptoms:

Brittle, twisted hair that breaks easily (pili torti)Sparse or patchy hair on the scalpHearing loss due to inner ear or nerve damage (sensorineural hearing loss)Delayed or absent puberty in boysLow testosterone levels in malesReduced fertility or infertility in malesDull or abnormal-looking hair texture

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Crandall syndrome.

View clinical trials →

No actively recruiting trials found for Crandall syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Crandall syndrome community →

No specialists are currently listed for Crandall syndrome.

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 Crandall syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Crandall syndrome

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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.What genetic tests should my child have to confirm Crandall syndrome?,When should we start hormone replacement therapy, and what are the risks and benefits?,What type of hearing device is best for my child's level of hearing loss?,Are my other children or future children at risk of having this condition?,Will my son be able to have children in the future, and what options exist?,Are there any specialists or centers with experience in Crandall syndrome that you can refer us to?,What signs should I watch for that might mean the condition is getting worse or causing new problems?

Common questions about Crandall syndrome

What is Crandall syndrome?

Crandall syndrome is a very rare inherited condition that affects hair growth, hearing, and hormone production in males. It is sometimes considered a variant of a related condition called Björnstad syndrome. The main features include pili torti (hair that is twisted and brittle, leading to sparse or patchy hair loss), sensorineural hearing loss (damage to the inner ear or hearing nerve that makes it hard to hear), and hypogonadism in males (meaning the testes do not produce enough hormones, which can affect puberty and fertility). The hair abnormality is usually noticeable in early childhood,

How is Crandall syndrome inherited?

Crandall syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Crandall syndrome typically begin?

Typical onset of Crandall syndrome is childhood. Age of onset can vary across affected individuals.