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Kleefstra Syndrome.
Kleefstra T, de Leeuw N. Kleefstra T, et al. 2010 Oct 5 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Oct 5 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20945554 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. ...Surveillance: Monitoring as needed of cardiac and renal/urologic abnormalities. GENETIC COUNSEL …
CLINICAL CHARACTERISTICS: Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hy …
Kleefstra Syndrome.
Aydin H, Bucak IH, Bagis H. Aydin H, et al. J Coll Physicians Surg Pak. 2022 Apr;32(4):S76-S78. doi: 10.29271/jcpsp.2022.Supp1.S76. J Coll Physicians Surg Pak. 2022. PMID: 35633020
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, …
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to …
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Siano MA, De Maggio I, Petillo R, Cocciadiferro D, Agolini E, Majolo M, Novelli A, Della Monica M, Piscopo C. Siano MA, et al. Pediatr Rep. 2022 Mar 11;14(1):131-139. doi: 10.3390/pediatric14010019. Pediatr Rep. 2022. PMID: 35324822 Free PMC article.
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a hist …
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Her …
Kleefstra syndrome: Impact on parents.
Haseley A, Wallis K, DeBrosse S. Haseley A, et al. Disabil Health J. 2021 Apr;14(2):101018. doi: 10.1016/j.dhjo.2020.101018. Epub 2020 Nov 5. Disabil Health J. 2021. PMID: 33189624
BACKGROUND: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. ...
BACKGROUND: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and re …
Psychosis and autism without functional regression in a patient with Kleefstra syndrome.
Colijn MA, Lakusta CM, Marcadier JL. Colijn MA, et al. Psychiatr Genet. 2023 Feb 1;33(1):34-36. doi: 10.1097/YPG.0000000000000330. Epub 2022 Dec 1. Psychiatr Genet. 2023. PMID: 36617745 Review.
Kleefstra syndrome is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase 1 (EHMT1) gene. ...As such, in this brief report, we review the literature with respect to the occurrence of psychosis in Kleefstra …
Kleefstra syndrome is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase …
Psychiatric manifestations of Kleefstra syndrome: a case report.
Yoshida K, Müller DJ, Desarkar P. Yoshida K, et al. Front Psychiatry. 2023 Jul 27;14:1174195. doi: 10.3389/fpsyt.2023.1174195. eCollection 2023. Front Psychiatry. 2023. PMID: 37575568 Free PMC article.
To date, a limited number of case reports of Kleefstra syndrome with psychiatric manifestations have been reported. ...CONCLUSION: To our knowledge, there is only a limited number of case reports that detail patients with Kleefstra syndrome exhibiting …
To date, a limited number of case reports of Kleefstra syndrome with psychiatric manifestations have been reported. ...CONCLUS …
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Giacomini T, Cordani R, Bagnasco I, Vercellino F, Giordano L, Milito G, Ferrero GB, Mandrile G, Scala M, Meli M, Falsaperla R, Luria G, De Grandis E, Canale E, Amadori E, Striano P, Nobili L, Siri L. Giacomini T, et al. Neuropediatrics. 2023 Dec;54(6):433-438. doi: 10.1055/s-0043-1775977. Epub 2023 Oct 6. Neuropediatrics. 2023. PMID: 37802085
BACKGROUND: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. ...
BACKGROUND: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring inte …
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
Cheema HA, Waheed N, Saeed A. Cheema HA, et al. J Coll Physicians Surg Pak. 2022 Feb;32(2):236-238. doi: 10.29271/jcpsp.2022.02.236. J Coll Physicians Surg Pak. 2022. PMID: 35108799
Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. ...Key Words: Kleefstra syndrome, KMT2C gene, Neurodevelopmental disord …
Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypoto …
A Korean male with Kleefstra syndrome presented with micropenis.
Lee R, Lee MS, Moon JE. Lee R, et al. Ann Pediatr Endocrinol Metab. 2023 Dec;28(4):308-311. doi: 10.6065/apem.2244174.087. Epub 2023 Dec 31. Ann Pediatr Endocrinol Metab. 2023. PMID: 38173384 Free PMC article.
Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. ...The purpose of this study is to describe the etiology, endocrine laboratory tests, and treatment of micropenis in …
Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transfe …
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
Atik T, Karaca E, Ozkinay E, Cogulu O. Atik T, et al. Genet Couns. 2015;26(4):431-5. Genet Couns. 2015. PMID: 26852514
It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome. We present 16-month-old twin sisters, one of whom had originally been referred for Down syndrome screening due to hypotonia, growth and de …
It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome …
129 results