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Start free with EleplanSpastic paraparesis-cataracts-speech delay syndrome
ORPHA:615938Clinical syndrome
Also called Fatty acyl-CoA reductase 1 superactivity
What it is
A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Clinical syndrome
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Norway)Autosomal dominant complex spastic paraplegia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
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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