Hypotrichosis-intellectual disability, Lopes type

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ORPHA:2266Q82.4
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Overview

Hypotrichosis-intellectual disability, Lopes type (also sometimes called Lopes syndrome) is a very rare genetic condition that affects two main areas of the body: hair growth and brain development. 'Hypotrichosis' means having much less hair than normal, and this condition causes sparse or very thin hair on the scalp and sometimes other parts of the body from birth or early childhood. Along with the hair changes, people with this condition also have intellectual disability, meaning they may have difficulty with learning, communication, and daily tasks compared to others their age. This condition is present from birth or becomes noticeable in early childhood. The degree of intellectual disability can vary from mild to more significant, and some individuals may also have other features affecting their development. Because this is such a rare condition, the full range of symptoms is not completely understood yet. There is currently no cure for Hypotrichosis-intellectual disability, Lopes type. Treatment focuses on supporting learning and development through special education, speech therapy, and occupational therapy. Hair loss can be managed with cosmetic approaches if desired. Early intervention and a strong support network can make a meaningful difference in quality of life.

Also known as:

Key symptoms:

Very sparse or thin hair on the scalp (hypotrichosis)Intellectual disability or learning difficultiesDelayed speech and language developmentReduced hair on eyebrows or eyelashesDevelopmental delays in childhood milestones

Clinical phenotype terms (4)— hover any for plain English
1-5 finger complete cutaneous syndactylyHP:0006088Advanced eruption of teethHP:0006288
Inheritance

Autosomal recessive

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

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hypotrichosis-intellectual disability, Lopes type.

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No actively recruiting trials found for Hypotrichosis-intellectual disability, Lopes type at this time.

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No specialists are currently listed for Hypotrichosis-intellectual disability, Lopes type.

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 Hypotrichosis-intellectual disability, Lopes type.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic test should we do to confirm this diagnosis, and how long will results take?,What early intervention services should we start right away?,What level of intellectual disability does my child have, and what does that mean for their future?,Are there any other health problems we should watch for with this condition?,Should other family members be tested for this gene change?,Are there any clinical trials or research studies we could participate in?,What support services and resources are available in our area for children with intellectual disabilities?

Common questions about Hypotrichosis-intellectual disability, Lopes type

What is Hypotrichosis-intellectual disability, Lopes type?

Hypotrichosis-intellectual disability, Lopes type (also sometimes called Lopes syndrome) is a very rare genetic condition that affects two main areas of the body: hair growth and brain development. 'Hypotrichosis' means having much less hair than normal, and this condition causes sparse or very thin hair on the scalp and sometimes other parts of the body from birth or early childhood. Along with the hair changes, people with this condition also have intellectual disability, meaning they may have difficulty with learning, communication, and daily tasks compared to others their age. This condit

How is Hypotrichosis-intellectual disability, Lopes type inherited?

Hypotrichosis-intellectual disability, Lopes type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hypotrichosis-intellectual disability, Lopes type typically begin?

Typical onset of Hypotrichosis-intellectual disability, Lopes type is infantile. Age of onset can vary across affected individuals.