Overview
Trichomegaly-cataract-hereditary spherocytosis syndrome is an extremely rare condition that was historically described as a combination of three main features: trichomegaly (abnormally long eyelashes), cataracts (clouding of the lens of the eye), and hereditary spherocytosis (a blood disorder where red blood cells are shaped like spheres instead of their normal disc shape, causing them to break down more easily). This condition is now classified as 'obsolete' in medical databases, meaning that it may have been reclassified, merged with another condition, or its original description may no longer be considered a distinct syndrome based on updated medical understanding. The spherocytosis component causes red blood cells to be fragile and break apart prematurely, leading to anemia (low red blood cell count), jaundice (yellowing of the skin and eyes), and an enlarged spleen. The cataracts can cause blurred or cloudy vision, and the unusually long eyelashes, while often not harmful, serve as a distinctive physical feature that may help doctors recognize the condition. Because this syndrome is obsolete and was reported in very few cases, there is limited information about its treatment. Management would typically focus on treating each component separately: monitoring and possibly surgically removing cataracts, managing anemia from spherocytosis (which may include folic acid supplements or splenectomy in severe cases), and regular follow-up with appropriate specialists.
Also known as:
Key symptoms:
Abnormally long eyelashesCloudy or blurred vision from cataractsAnemia (low red blood cell count)Yellowing of the skin and eyes (jaundice)Enlarged spleenFatigue and tirednessPale skinDark-colored urineGallstonesShortness of breath with activity
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis 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: Trichomegaly-cataract-hereditary spherocytosis 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: Trichomegaly-cataract-hereditary spherocytosis syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome.
Start the conversation →Latest news about OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome
No recent news articles for OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis 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 condition still recognized as a distinct syndrome, or should we consider it as separate conditions occurring together?,How severe is the spherocytosis, and will my child need a splenectomy?,When should the cataracts be treated surgically?,What genetic testing would you recommend to better understand the cause?,What vaccinations are needed if a splenectomy is performed?,Are there any signs of a crisis I should watch for at home?,Should other family members be screened for spherocytosis or cataracts?
Common questions about OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome
What is OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome?
Trichomegaly-cataract-hereditary spherocytosis syndrome is an extremely rare condition that was historically described as a combination of three main features: trichomegaly (abnormally long eyelashes), cataracts (clouding of the lens of the eye), and hereditary spherocytosis (a blood disorder where red blood cells are shaped like spheres instead of their normal disc shape, causing them to break down more easily). This condition is now classified as 'obsolete' in medical databases, meaning that it may have been reclassified, merged with another condition, or its original description may no long
How is OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome inherited?
OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome typically begin?
Typical onset of OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome is childhood. Age of onset can vary across affected individuals.