Overview
Syndromic recessive X-linked ichthyosis is a rare genetic skin condition that belongs to a group of disorders called ichthyoses, which cause dry, scaly skin. Unlike the more common non-syndromic form of X-linked ichthyosis (which mainly affects the skin), the syndromic form involves additional body systems beyond the skin. This condition is caused by a larger deletion on the X chromosome that removes the STS gene (steroid sulfatase) along with neighboring genes. Because of these larger deletions, affected individuals may experience not only the characteristic dark, plate-like scales on the skin but also additional features such as intellectual disability, epilepsy, attention deficit hyperactivity disorder (ADHD), and sometimes abnormalities of the eyes (corneal opacities) or undescended testes. The specific combination of extra features depends on which neighboring genes are also deleted. Since it is X-linked recessive, it primarily affects males, while females who carry one copy of the deletion are usually unaffected or only mildly affected. Treatment is mainly supportive and focuses on managing the skin symptoms with moisturizers and keratolytic creams, while the additional features require care from multiple specialists. There is currently no cure, but early diagnosis and coordinated care can significantly improve quality of life.
Key symptoms:
Dark, thick, plate-like scales on the skinDry skin that worsens in cold or dry weatherScaling that often spares the palms and solesIntellectual disability (ranging from mild to moderate)Seizures or epilepsyAttention deficit hyperactivity disorder (ADHD)Behavioral difficultiesUndescended testes (cryptorchidism) in boysCloudy spots on the cornea of the eyeShort stature in some casesDelayed developmental milestonesHypogonadism (low hormone levels from the testes)Bone abnormalities in some cases (such as chondrodysplasia punctata)
Clinical phenotype terms (21)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Syndromic recessive X-linked ichthyosis.
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Specialists
View all specialists →No specialists are currently listed for Syndromic recessive X-linked ichthyosis.
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 Syndromic recessive X-linked ichthyosis.
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.How large is the deletion on my child's X chromosome, and which genes are affected?,What additional health problems should we watch for based on the specific deletion?,What is the best daily skin care routine for managing the ichthyosis?,Should my child be evaluated by a neurologist or developmental specialist?,Are there any clinical trials or new treatments being studied for this condition?,What are the chances of this condition occurring in future pregnancies?,What school accommodations or therapies should we consider for my child?
Common questions about Syndromic recessive X-linked ichthyosis
What is Syndromic recessive X-linked ichthyosis?
Syndromic recessive X-linked ichthyosis is a rare genetic skin condition that belongs to a group of disorders called ichthyoses, which cause dry, scaly skin. Unlike the more common non-syndromic form of X-linked ichthyosis (which mainly affects the skin), the syndromic form involves additional body systems beyond the skin. This condition is caused by a larger deletion on the X chromosome that removes the STS gene (steroid sulfatase) along with neighboring genes. Because of these larger deletions, affected individuals may experience not only the characteristic dark, plate-like scales on the ski
How is Syndromic recessive X-linked ichthyosis inherited?
Syndromic recessive X-linked ichthyosis follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Syndromic recessive X-linked ichthyosis typically begin?
Typical onset of Syndromic recessive X-linked ichthyosis is neonatal. Age of onset can vary across affected individuals.