Overview
Congenital cataract-ichthyosis syndrome is an extremely rare condition that was historically described as a combination of two main problems present from birth: cataracts (clouding of the lens in the eyes) and ichthyosis (a skin condition that causes dry, thick, scaly skin resembling fish scales). This condition is now listed as 'obsolete' in medical databases, meaning that with advances in genetic understanding, it has likely been reclassified or merged into another recognized condition. The original descriptions noted that affected babies were born with or developed cloudy lenses in one or both eyes, leading to vision problems, along with widespread skin scaling and dryness. Some cases may have had additional features. Because this diagnosis is no longer actively used as a distinct entity, patients who were previously given this diagnosis may now fall under broader categories such as certain forms of ichthyosis with eye involvement, or specific genetic syndromes that include both skin and eye abnormalities. If you or a family member has been given this diagnosis, it is important to seek updated genetic evaluation to determine the precise underlying cause, as modern genetic testing can often identify the specific gene responsible. Treatment has traditionally been supportive, focusing on managing the cataracts through surgery and treating the skin with moisturizers and keratolytic agents to reduce scaling.
Key symptoms:
Cloudy lenses in the eyes present at birth (cataracts)Dry, thick, scaly skin over much of the bodyVision problems or blindness if cataracts are not treatedRedness of the skinTight or cracked skinDifficulty with temperature regulation due to skin problemsSensitivity to lightPossible delayed growth
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital cataract-ichthyosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital cataract-ichthyosis 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: Congenital cataract-ichthyosis 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
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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.Has modern genetic testing been done to identify the exact cause of this condition?,When should cataract surgery be performed, and what are the expected outcomes?,What is the best daily skin care routine for my child's type of ichthyosis?,Are there any complications I should watch for as my child grows?,Should other family members be tested genetically?,What specialists should be part of our care team?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about OBSOLETE: Congenital cataract-ichthyosis syndrome
What is OBSOLETE: Congenital cataract-ichthyosis syndrome?
Congenital cataract-ichthyosis syndrome is an extremely rare condition that was historically described as a combination of two main problems present from birth: cataracts (clouding of the lens in the eyes) and ichthyosis (a skin condition that causes dry, thick, scaly skin resembling fish scales). This condition is now listed as 'obsolete' in medical databases, meaning that with advances in genetic understanding, it has likely been reclassified or merged into another recognized condition. The original descriptions noted that affected babies were born with or developed cloudy lenses in one or b
How is OBSOLETE: Congenital cataract-ichthyosis syndrome inherited?
OBSOLETE: Congenital cataract-ichthyosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Congenital cataract-ichthyosis syndrome typically begin?
Typical onset of OBSOLETE: Congenital cataract-ichthyosis syndrome is neonatal. Age of onset can vary across affected individuals.