Overview
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome is a very rare genetic condition that affects multiple parts of the body from birth. The name describes its three main features: microcephaly (a smaller-than-normal head size), congenital cataracts (clouding of the eye lens present at birth), and a skin condition that looks similar to psoriasis, causing red, scaly patches on the skin. This condition is sometimes referred to by its Orphanet code ORPHA:488168 and is classified under the broader category of rare metabolic and multi-system disorders. Because the brain does not develop to its full size, children with this syndrome often experience intellectual disability and developmental delays. The eye problems can cause significant vision difficulties if not treated early. The skin symptoms can be uncomfortable and may require ongoing management. Together, these features can affect a child's daily life, learning, and independence in meaningful ways. Treatment focuses on managing each symptom separately, since there is currently no cure. Eye surgery can help with cataracts, special education and therapy support brain development, and skin treatments can reduce discomfort. A team of different specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Smaller than normal head size (microcephaly)Cloudy lenses in the eyes present at birth (congenital cataracts)Red, scaly, psoriasis-like skin rashesIntellectual disability or learning difficultiesDelayed development of motor skills such as sitting and walkingVision problems or reduced visionShort stature or slow growthFeeding difficulties in infancy
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 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-congenital cataract-psoriasiform dermatitis 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 Microcephaly-congenital cataract-psoriasiform dermatitis 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.What genetic testing do you recommend to confirm the diagnosis, and how long will results take?,How soon should my child have cataract surgery, and what vision outcomes can we expect?,What therapies should we start right away to support my child's development?,Are there any other health problems we should watch for that are associated with this syndrome?,What skin treatments are safest for my child's age, and how do we manage flare-ups?,Are there any research studies or registries for this condition that we could participate in?,What support services and educational resources are available for children with this syndrome?
Common questions about Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
What is Microcephaly-congenital cataract-psoriasiform dermatitis syndrome?
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome is a very rare genetic condition that affects multiple parts of the body from birth. The name describes its three main features: microcephaly (a smaller-than-normal head size), congenital cataracts (clouding of the eye lens present at birth), and a skin condition that looks similar to psoriasis, causing red, scaly patches on the skin. This condition is sometimes referred to by its Orphanet code ORPHA:488168 and is classified under the broader category of rare metabolic and multi-system disorders. Because the brain does not deve
How is Microcephaly-congenital cataract-psoriasiform dermatitis syndrome inherited?
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-congenital cataract-psoriasiform dermatitis syndrome typically begin?
Typical onset of Microcephaly-congenital cataract-psoriasiform dermatitis syndrome is neonatal. Age of onset can vary across affected individuals.