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Start free with EleplanSjögren-Larsson syndrome
ORPHA:816Disease
Also called Fatty acid alcohol oxidoreductase deficiency
What it is
A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Key facts
- Prevalence
- 1-5 / 10 000 (Taiwan, Province of China)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal 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
Very common80–99%
7Common30–79%
10Sometimes5–29%
17- Abnormal foot morphology
- Abnormal metabolic brain imaging by MRS
- Dysarthria
- Dystonia
- Hyperactive deep tendon reflexes
- Hyperreflexia
- Hypertonia
- Hypohidrosis
and 9 more in this range
Rare1–4%
54- Abnormal facial shape
- Abnormality of the dentition
- Anal atresia
- Ankle clonus
- Asthma
- Axial hypotonia
- Babinski sign
- Blepharitis
and 46 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.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
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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