Overview
Intellectual disability-hypotonia-skin hyperpigmentation syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. The term 'OBSOLETE' in its name indicates that this diagnosis may have been reclassified or merged with another condition as medical understanding has advanced. The syndrome was originally characterized by three main features: intellectual disability (difficulty with learning, reasoning, and adaptive skills), hypotonia (low muscle tone, meaning muscles feel floppy or less firm than expected), and skin hyperpigmentation (patches of skin that are darker than surrounding areas). Children with this condition typically showed developmental delays from early in life, including delays in reaching motor milestones like sitting and walking, as well as delays in speech and language development. Because this condition is so rare and has been marked as obsolete, the exact genetic cause may not be fully established, and it is possible that affected individuals today would receive a more specific or updated diagnosis based on modern genetic testing. Treatment has generally been supportive, focusing on therapies to help with development and managing individual symptoms. There are no specific curative treatments known for this condition.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesLow muscle tone (floppy muscles)Dark patches on the skinDelayed motor milestones such as sitting and walkingSpeech and language delaysPoor coordinationFeeding difficulties in infancyGeneralized weakness
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation 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 OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation 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.Is this diagnosis still considered current, or should we pursue updated genetic testing for a more specific diagnosis?,What type of genetic testing would you recommend for our family?,What therapies are most important to start right away?,How will my child's muscle tone and development likely change over time?,Are there any clinical trials or research studies we should know about?,What educational supports should we request for our child?,Should other family members be tested for this condition?
Common questions about OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome
What is OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome?
Intellectual disability-hypotonia-skin hyperpigmentation syndrome is an extremely rare genetic condition that has been described in only a very small number of individuals in the medical literature. The term 'OBSOLETE' in its name indicates that this diagnosis may have been reclassified or merged with another condition as medical understanding has advanced. The syndrome was originally characterized by three main features: intellectual disability (difficulty with learning, reasoning, and adaptive skills), hypotonia (low muscle tone, meaning muscles feel floppy or less firm than expected), and s
At what age does OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome typically begin?
Typical onset of OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome is infantile. Age of onset can vary across affected individuals.