Lujan Fryns syndrome (LFS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Lujan Fryns syndrome (LFS). This is caused by mutations in the MED12 gene on chromosome Xq. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the MED12 gene on chromosome Xq
- The transmission is X-linked recessive
Related MED12 disorders
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Dysmorphic features
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Neurological features
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Behavioural features
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Skeletal features
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Other features
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Differential diagnosis
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Synonyms
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References
- Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006; 1:26.
- Graham JM Jr, Schwartz CE. MED12 related disorders. Am J Med Genet A 2013; 161A:2734-2740.
- Hunter JM, Kiefer J, Balak CD, et al. Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. Am J Med Genet A 2015; 167A:931-973.
- Khan A, Humayun M, Haider I, Ayub M. Lujan-Fryns syndrome (LFS): a unique combination of hypernasality, marfanoid body habitus, and neuropsychiatric issues, presenting as acute-onset dysphagia. Clin Med Insights Case Rep 2016; 9:115-118.
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