Overview
Hirsutism-skeletal dysplasia-intellectual disability syndrome is a very rare condition that affects multiple parts of the body at the same time. It is listed in Orphanet under code 2156 and is now considered an 'obsolete' entry, meaning it may have been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined condition. The syndrome is characterized by three main features: hirsutism (excessive hair growth on the body and face), skeletal dysplasia (abnormal bone and skeleton development), and intellectual disability (challenges with learning, thinking, and daily functioning). Because this entry is marked as obsolete, the medical understanding of this condition has likely evolved, and patients who were previously given this diagnosis may now be reclassified under a more specific syndrome. The exact cause, genetic basis, and full range of symptoms are not well established in current medical literature. Anyone with this diagnosis should work closely with a clinical geneticist to explore whether a more updated diagnosis applies to them.
Also known as:
Key symptoms:
Excessive hair growth on the face and body (hirsutism)Abnormal bone and skeleton development (skeletal dysplasia)Intellectual disability or learning difficultiesPossible short stature due to bone abnormalitiesDelayed developmental milestones
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability 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: Hirsutism-skeletal dysplasia-intellectual disability syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome.
Start the conversation →Latest news about OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome
No recent news articles for OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome.
Follow this condition to be notified when news becomes available.
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 accurate, or has it been reclassified under a newer condition?,Should we pursue whole exome sequencing or another genetic test to find a more specific diagnosis?,What therapies are most important to start right away?,Are there any clinical trials or research studies we should know about?,What specialists should be part of our care team?,How will this condition change over time, and what should we watch for?,Are there support groups or patient communities for conditions like this?
Common questions about OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome
What is OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome?
Hirsutism-skeletal dysplasia-intellectual disability syndrome is a very rare condition that affects multiple parts of the body at the same time. It is listed in Orphanet under code 2156 and is now considered an 'obsolete' entry, meaning it may have been reclassified, merged with another diagnosis, or found to overlap significantly with a better-defined condition. The syndrome is characterized by three main features: hirsutism (excessive hair growth on the body and face), skeletal dysplasia (abnormal bone and skeleton development), and intellectual disability (challenges with learning, thinking