OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

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ORPHA:3360
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Overview

Trichodermal syndrome with intellectual disability (also sometimes referred to as tricho-dermo-vertebral syndrome or related names) is an extremely rare genetic condition that was historically described in medical literature but has since been classified as 'obsolete' in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct entity. The condition was originally reported to involve abnormalities of the hair (tricho-), skin (dermal), and intellectual development. Affected individuals were described as having unusual hair texture or growth patterns, skin abnormalities, and varying degrees of intellectual disability. Because this condition is obsolete in current classification systems, very limited up-to-date clinical information is available. Patients or families who were previously given this diagnosis should consult with a clinical geneticist to determine whether a more current diagnosis or reclassification applies to their situation. Modern genetic testing tools, such as whole exome or whole genome sequencing, may help clarify the underlying genetic cause and lead to a more precise diagnosis. Treatment has historically been supportive and symptom-based, addressing developmental delays through early intervention programs and managing any skin or hair-related concerns as they arise.

Also known as:

Key symptoms:

Intellectual disabilityUnusual hair texture or sparse hairSkin abnormalitiesDevelopmental delaysLearning difficulties

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Trichodermal syndrome-intellectual disability syndrome.

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No actively recruiting trials found for OBSOLETE: Trichodermal syndrome-intellectual disability syndrome at this time.

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No specialists are currently listed for OBSOLETE: Trichodermal syndrome-intellectual disability 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 OBSOLETE: Trichodermal syndrome-intellectual disability syndrome.

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Community

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Latest news about OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

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Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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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.Is this diagnosis still considered valid, or should we pursue updated genetic testing for a more current diagnosis?,What genetic tests would you recommend to better understand my or my child's condition?,What early intervention services should we start right away?,Are there any related conditions we should be screened for?,How often should we follow up with specialists?,Are there any clinical trials or research studies that might be relevant?,What resources are available to support our family?

Common questions about OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

What is OBSOLETE: Trichodermal syndrome-intellectual disability syndrome?

Trichodermal syndrome with intellectual disability (also sometimes referred to as tricho-dermo-vertebral syndrome or related names) is an extremely rare genetic condition that was historically described in medical literature but has since been classified as 'obsolete' in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct entity. The condition was originally reported to involve abnormalities of the hair (tricho-), skin (dermal), and intellectual development. Affected individuals were des

At what age does OBSOLETE: Trichodermal syndrome-intellectual disability syndrome typically begin?

Typical onset of OBSOLETE: Trichodermal syndrome-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.