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5,273 results

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Quoted phrase not found in phrase index: "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"
Page 1
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). ...G-banded karyotype analysis sho …
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectua …
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 …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anom …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Other clinical features in some patients are hypertension, hypothyroidism, hyperlipidemia, hypogonadism, urological abnormalities, adult short stature, and bone-skeletal disturbances. Most patients demonstrate normal intelligence, although some reports indicate delayed psy …
Other clinical features in some patients are hypertension, hypothyroidism, hyperlipidemia, hypogonadism, urological abnormalities, ad …
Mowat-Wilson syndrome.
Mowat DR, Wilson MJ, Goossens M. Mowat DR, et al. J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305. J Med Genet. 2003. PMID: 12746390 Free PMC article. Review.
MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all ha …
MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been …
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D. Renier D, et al. Childs Nerv Syst. 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. Childs Nerv Syst. 2000. PMID: 11151714 Review.
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and Apert syndrome carries the higher risk of mental re …
In nonsyndromic cases, the higher risks are observed in multisutural craniosynostoses (brachycephaly, oxycephaly). In syndromic cases …
Tethered cord syndrome in KBG syndrome.
Hills S, Pugacheva A, Weltin P, Maughan A, Morton SU, Feldman HA, Klinge PM, Agrawal PB. Hills S, et al. Am J Med Genet A. 2023 May;191(5):1222-1226. doi: 10.1002/ajmg.a.63128. Epub 2023 Feb 1. Am J Med Genet A. 2023. PMID: 36722669
TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face. ...Patients with KBG we …
TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants …
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A. Neri S, et al. Eur J Med Genet. 2022 Nov;65(11):104624. doi: 10.1016/j.ejmg.2022.104624. Epub 2022 Sep 18. Eur J Med Genet. 2022. PMID: 36130690
The first two genes described were the autosomal recessive inherited gene WASHC5 associated with Ritscher-Schinzel syndrome 1 (RTSCS1), and CCDC22, an X-linked recessive gene causing Ritscher-Schinzel syndrome 2 (RTSCS2). ...Developmental delay, intellectual …
The first two genes described were the autosomal recessive inherited gene WASHC5 associated with Ritscher-Schinzel syndrome 1 (RTSCS1 …
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2023 Aug;191(8):2215-2218. doi: 10.1002/ajmg.a.63245. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183566
PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous o …
PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, He …
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
Hamilton MJ, Suri M. Hamilton MJ, et al. Adv Genet. 2020;105:137-174. doi: 10.1016/bs.adgen.2020.03.002. Epub 2020 May 26. Adv Genet. 2020. PMID: 32560786 Review.
In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies. Known cond …
In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a development …
5,273 results