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Start free with EleplanSyndromic recessive X-linked ichthyosis
ORPHA:281090Disease
Also called Recessive X-linked ichthyosis with extracutaneous manifestations · Syndromic RXLI
What it is
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Childhood
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
5Sometimes5–29%
13- Abdominal wall defect
- Abnormality of the abdominal wall
- Abnormal stomach morphology
- Acute leukemia
- Autism
- Cryptorchidism
- Hypogonadism
- Lissencephaly
and 5 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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