MED13L syndrome
Última actualización 2 Oct 2024
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MED13L syndrome is a developmental disorder characterised by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).
Descripción
MED13L syndrome is a developmental disorder characterised by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects).
Intellectual disability and developmental delay are usually moderate to severe in people with MED13L syndrome. Weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking, are early symptoms of the condition. After learning to walk, some affected individuals continue to have difficulty with coordination and balance (ataxia). Speech is also delayed, and most people with this condition develop only a few words or never learn to talk. People with MED13L syndrome may exhibit characteristics typical of autism spectrum disorder, including repetitive actions and difficulty with social interactions.
Most people with MED13L syndrome have unusual facial features that consist of a depressed nasal bridge, a bulbous nasal tip, straight eyebrows, outside corners of the eyes that point upward (upslanting palpebral fissures), full cheeks, and an open mouth. Other facial features that sometimes occur are a pronounced double curve of the upper lip (Cupid's bow), and a deep space between the nose and upper lip (philtrum).
Different congenital heart defects can occur in MED13L syndrome. Affected individuals may have transposition of the great arteries, which is abnormal positioning of the large blood vessel that distributes blood from the heart to the rest of the body (aorta) and the artery that carries blood from the heart to the lungs (the pulmonary artery). Other congenital heart defects in MED13L syndrome include a hole between the two lower chambers of the heart (ventricular septal defect), a hole between the two upper chambers of the heart (patent foramen ovale), or a particular combination of heart defects known as tetralogy of Fallot.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Asadollahi-Rauch syndrome
ASRAS
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Intellectual disability and distinctive facial features with or without cardiac defects
MED13L haploinsufficiency syndrome
MED13L-related intellectual disability
MRFACD
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Lecturas adicionales y referencias
- MED13L syndrome; MedlinePlus, National Library of Medicine.
- Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13.
- Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.
- Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25.
- Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.
- van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Jan;23(1):135-8. doi: 10.1038/ejhg.2014.69. Epub 2014 Apr 30.
- Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Am J Med Genet A. 2017 May;173(5):1264-1269. doi: 10.1002/ajmg.a.38168. Epub 2017 Mar 29.
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