Lujan syndrome
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Lujan syndrome is a condition characterised by intellectual disability, behavioural problems, and certain physical features. It occurs almost exclusively in males.
Descrição
Lujan syndrome is a condition characterised by intellectual disability, behavioural problems, and certain physical features. It occurs almost exclusively in males.
The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioural problems can include hyperactivity, aggressiveness, extreme shyness, and excessive attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social interaction. A few have been diagnosed with psychiatric problems such as delusions and hallucinations.
Characteristic physical features of Lujan syndrome include a tall, thin body and an unusually large head (macrocephaly). Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and the upper lip (philtrum); a narrow roof of the mouth (palate); crowded teeth; and a small chin (micrognathia). Almost all people with this condition have weak muscle tone (hypotonia).
Additional signs and symptoms of Lujan syndrome can include abnormal speech, heart defects, and abnormalities of the genitourinary system. Many affected individuals have long fingers and toes with an unusually large range of joint movement (hyperextensibility). Seizures and abnormalities of the tissue that connects the left and right halves of the brain (corpus callosum) have also been reported in people with this condition.
Padrões de herança
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
LFS
Lujan-Fryns syndrome
X-linked intellectual deficit with marfanoid habitus
X-linked mental retardation with marfanoid habitus
XLMR with marfanoid features
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Leitura adicional e referências
- Lujan syndrome; MedlinePlus, National Library of Medicine.
- Graham JM Jr, Schwartz CE. MED12 related disorders. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.
- Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.
- Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Munoz F. Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. Am J Med Genet A. 2006 Dec 15;140(24):2807-11. doi: 10.1002/ajmg.a.31503.
- Lujan JE, Carlin ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1984 Jan;17(1):311-22. doi: 10.1002/ajmg.1320170124.
- Lyons MJ. MED12-Related Disorders. 2008 Jun 23 [updated 2021 Aug 12]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1676/
- Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-Gonzalez AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Csaszar A, Karteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22.
- Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16.
- Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis. 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26.
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