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Sjoegren-Larsson syndrome
Pathology:
- neurocutaneous disorder
- increased keratinization of skin
Genetics:
- autosomal recessive
- associated with defects in ALDH3A2
Clinical manifestations:
- severe mental retardation
- spastic paraplegia or quadriplegia
- congenital ichthyosis (usually evident at birth)
- neurologic symptoms appear in the 1st or 2nd year of life
- most patients have an IQ of less than 60
- glistening white spots on the retina
- seizures
- short stature
- speech defects
Laboratory:
- ALDH3A2 gene mutation
General
syndrome
Database Correlations
OMIM 270200
References
OMIM :accession 270200