Short answer · Medically reviewed summary · Last updated: 2026-05-08
Sjögren-Larsson Syndrome is classified under ICD-10 code Q80.3 (congenital ichthyosiform erythroderma) and formerly under ICD-9 code 757.1. These diagnostic codes are used for medical billing and clinical documentation to identify this rare neurocutaneous disorder characterized by the triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. What is the clinical nature of Sjögren-Larsson Syndrome? Sjögren-Larsson Syndrome is an ultra-rare autosomal recessive metabolic disorder.
ICD10 code of Sjögren-Larsson Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Sjögren-Larsson Syndrome, with classification details for clinicians, coders and patients.
Sjögren-Larsson Syndrome is classified under ICD-10 code Q80.3 (congenital ichthyosiform erythroderma) and formerly under ICD-9 code 757.1. These diagnostic codes are used for medical billing and clinical documentation to identify this rare neurocutaneous disorder characterized by the triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia.
What is the clinical nature of Sjögren-Larsson Syndrome?
Sjögren-Larsson Syndrome is an ultra-rare autosomal recessive metabolic disorder. It is caused by mutations in the ALDH3A2 gene, which leads to a deficiency of fatty aldehyde dehydrogenase. This enzyme deficiency results in the accumulation of toxic fatty aldehydes in the skin, brain, and retina, manifesting as the classic clinical triad that defines Sjögren-Larsson Syndrome.
How is Sjögren-Larsson Syndrome diagnosed?
Diagnosis of Sjögren-Larsson Syndrome typically involves a combination of clinical observation and biochemical testing. Physicians look for the presence of generalized ichthyosis (scaly skin) present from birth, followed by developmental delays and neurological involvement. Key diagnostic steps include:
- Biochemical Analysis: Measuring fatty aldehyde dehydrogenase activity in cultured skin fibroblasts or leukocytes.
- Genetic Testing: Molecular genetic testing to identify biallelic pathogenic variants in the ALDH3A2 gene.
- Neurological Assessment: MRI imaging often reveals white matter abnormalities characteristic of Sjögren-Larsson Syndrome.
Is Sjögren-Larsson Syndrome hereditary?
Yes, Sjögren-Larsson Syndrome is inherited in an autosomal recessive pattern. This means that both parents must be carriers of a mutated ALDH3A2 gene for a child to be affected. When both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit the condition.
Community and support for Sjögren-Larsson Syndrome
Living with Sjögren-Larsson Syndrome requires a multidisciplinary approach, including dermatology, neurology, and physical therapy. Currently, 14 members of the DiseaseMaps.org community have shared their experiences with Sjögren-Larsson Syndrome, highlighting the importance of peer support and shared knowledge in managing the daily challenges of this rare condition.
Next steps
- Consult a clinical geneticist to discuss carrier testing and family planning options.
- Schedule regular evaluations with a dermatologist to manage skin barrier health.
- Connect with the 14 families on DiseaseMaps.org to share management strategies for Sjögren-Larsson Syndrome.
- Review updated clinical trial registries for ongoing research into metabolic therapies.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Sjögren-Larsson Syndrome.
- Orphanet: ORPHA824 - Sjögren-Larsson Syndrome.
- OMIM (Online Mendelian Inheritance in Man): #270200 - Sjögren-Larsson Syndrome.
- National Library of Medicine: GeneReviews - Sjögren-Larsson Syndrome Overview.
