Overview
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: ichthyosis (dry, scaly skin that looks like fish scales), short stature (being shorter than expected for age), brachydactyly (unusually short fingers and toes), and microspherophakia (a condition where the lens of the eye is abnormally small and round, which can cause vision problems). Because this syndrome involves the skin, skeleton, and eyes together, it is considered a multi-system disorder. Patients typically show signs of the condition early in life. The skin changes may be present at birth or develop during infancy, and the skeletal and eye features become more apparent as the child grows. Vision problems related to microspherophakia can include nearsightedness (myopia) and, in some cases, a risk of the lens shifting out of place (lens subluxation), which may lead to glaucoma if not monitored. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing each symptom individually. Skin care with moisturizers and keratolytic creams can help with ichthyosis. Orthopedic monitoring may be needed for skeletal issues, and regular eye exams are essential to catch and treat vision problems early. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Dry, scaly skin (ichthyosis)Short statureShort fingers and toesAbnormally small and round eye lensesNearsightedness or other vision problemsPossible lens dislocation in the eyeThickened skin on palms and solesDelayed growthJoint stiffness or limited range of motionRisk of glaucoma
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ichthyosis-short stature-brachydactyly-microspherophakia 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 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
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Caregiver Resources
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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.What type of ichthyosis does my child have, and what is the best skin care routine?,How often should my child have eye exams, and what specific eye complications should we watch for?,Is genetic testing recommended for our family, and what might it tell us?,Should my child be evaluated for growth hormone deficiency?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team?,What can we do to support my child's emotional well-being and self-esteem?
Common questions about Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
What is Ichthyosis-short stature-brachydactyly-microspherophakia syndrome?
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its main features: ichthyosis (dry, scaly skin that looks like fish scales), short stature (being shorter than expected for age), brachydactyly (unusually short fingers and toes), and microspherophakia (a condition where the lens of the eye is abnormally small and round, which can cause vision problems). Because this syndrome involves the skin, skeleton, and eyes together, it is considered a multi-system disorder. Pati
How is Ichthyosis-short stature-brachydactyly-microspherophakia syndrome inherited?
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ichthyosis-short stature-brachydactyly-microspherophakia syndrome typically begin?
Typical onset of Ichthyosis-short stature-brachydactyly-microspherophakia syndrome is infantile. Age of onset can vary across affected individuals.