From: Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile
Syndrome | Search terms |
---|---|
Angelman syndrome (AS) | "Angelman*" OR "Angelman* syndrome" OR "Happy puppet syndrome" OR "Happy puppet" |
CHARGE syndrome (CS) | "CHARGE" OR "CHARGE syndrome" OR "CHARGE association" OR "Hall-Hittner* syndrome" OR "Hall* Hittner* syndrome" OR "Coloboma" |
*Cornelia de Lange syndrome (CdLS) | "Cornelia de Lange* syndrome" OR "CDLS" OR "De Lange* syndrome" OR "Branchmann-De Lange* syndrome" OR "BDLS" OR "Brachmann* syndrome" OR "Amstelodamensis typus degenerativus" OR "Amsterdam dwarf syndrome" OR "Amsterdam dwarfism" OR "Typus degenerativus amstelodamensis" |
*Cri du Chat syndrome (CdC) | "Cri-du-Chat" OR "Cat cry syndrome" OR "5p minus syndrome" OR "Chromosome 5p deletion syndrome" OR "5p- syndrome; Monosomy 5p" OR "5p deletion syndrome" OR "Chromosome 5p- syndrome" |
*Down Syndrome (DS) | "Down* syndrome" OR "Trisomy 21" OR "Trisomy G" OR "47,XX,+21" OR "47,XY,+2" |
*Fragile X syndrome (FXS) | "Fragile X" OR "Fragile-X" OR "Fragile X syndrome" OR "FXS" OR "FRAXA syndrome" OR "AFRAX" OR "Martin-Bell* syndrome" OR "Marker X syndrome" OR "fraX syndrome" OR "fra(X) syndrome" OR "X-linked mental retardation" OR "Macroorchidism" OR "Escalante* syndrome" OR "Escalante*" |
Hurler syndrome (Hurler) | "Hurler*" OR "Mucopolysaccharidosis Ih" OR "MPS1-H" OR "MPS1H" OR "Mucopolysaccharidosis type 1H" OR "Mucopolysaccharidosis type IH" OR "Hurler disease" OR "MPSIH" |
Jacobsen syndrome (JS) | "Jacobsen syndrome" OR "Jacobsen*" OR "JBS" OR "Chromosome 11q deletion syndrome" OR "Partial 11q monosomy syndrome" |
Juvenile neuronal ceroid-lipofuscinosis (JNCL) | "juvenile neuronal*" OR "JNCL" OR "Neuronal ceroid lipofuscinosis 3" OR "Juvenile neuronal ceroid lipofuscinosis" OR "Vogt Spielmeyer disease" OR "Spielmeyer Sjogren disease" OR "CLN3 disease" |
Lesch-Nyhan syndrome (LNS) | "Lesch-Nyhan syndrome" OR "LNS" OR "HPRT deficiency" OR "HPRT1 deficiency" OR "HPRT deficiency, complete" OR "Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" OR "Lesch-Nyhan syndrome" OR "Lesch Nyhan disease" |
Mucopolysaccharidosis Type II (MPS II) | "Hunter*" OR "Mucopolysaccharidosis type II" OR "MPS II" OR "Attenuated MPS" OR "Severe MPS II" OR "Hunter syndrome" OR "Iduronate 2-sulfatase deficiency" OR "I2S deficiency" OR "MPS 2" |
Mucopolysaccharidosis Type IIIB (MPS IIIB) | "sanfilippo*" OR "Mucopolysaccharidosis type III" OR "Mucopoly-saccharidosis type 3" OR "Sanfilippo syndrome" OR "MPSIII" OR "Mucopolysaccharidosis type 3" OR "Sanfilippo disease" |
Mucopolysaccharidosis Type IV (MPS IV) | "Morquio*" OR "Morquio syndrome B" OR "Mucopolysaccharidosis type IVB" OR "MPS IVB" OR "MPS 4B" |
*Neurofibromatosis (NF) | "Neurofibromatosis" OR "Neurofibromatosis type 1" OR "Neurofibromatosis 1" OR "NF1" OR "Peripheral Neurofibromatosis" OR "Recklinghausen* disease" OR "Neurofibromatosis type 2" OR "Neurofibromatosis 2" OR "NF2" OR "Central neurofibromatosis" OR "Bilateral acoustic neurofibromatosis" OR "BANF" OR "Familial acoustic neuromas" |
Norrie disease (Norrie) | "Atrophia bulborum hereditaria" OR "Pseudoglioma" OR "Episkopi blindness" OR "Norrie*" OR "Norrie-Warburg syndrome" OR "Anderson-Warburg syndrome" OR "NDP" OR "Fetal iritis syndrome" |
*Prader–Willi syndrome (PWS) | "PWS" OR "Prader–Willi*" OR "Willi–Prader syndrome" OR "Prader–Labhart–Willi syndrome" |
*Rett Syndrome (Rett) | "Rett*" OR "Rett* syndrome" OR "Rett* disorder" OR "RTS" OR "RTT" OR "Cerebroatrophic hyperammonemia" OR "Autism-dementia-ataxia-loss of purposeful hand use syndrome" |
Smith–Lemli–Opitz syndrome (SLOS) | "Smith Lemli Opitz syndrome" OR "SLO syndrome" OR "7-Dehydrocholesterol reductase deficiency" OR "RSH syndrome" OR "SLOS" OR "Rutledge lethal multiple congenital anomaly syndrome" OR "Polydactyly, sex reversal, renal hypoplasia, and unilobular lung" OR "Lethal acrodysgenital syndrome" |
Smith–Magenis syndrome (SMS) | "Smith–Magenis*" OR "smith magenis" OR "Chromosome 17p11.2 deletion syndrome" OR "17p- syndrome" OR "17p11.2 monosomy" OR "chromosome 17p deletion syndrome" OR "deletion 17p syndrome" OR "partial monosomy 17p" OR "SMS" |
Tuberous Sclerosis Complex (TSC) | "Tuberous sclerosis" OR "Tuberous sclerosis syndrome" OR "Bourneville* disease" OR "Bourneville* phakomatosis" OR "Cerebral sclerosis" OR "Cerebral sclerosis syndrome" OR "Epiloia" OR "Sclerosis tuberose" OR "Tuberose sclerosis" OR "Tuberose sclerosis syndrome" OR "Tuberous sclerosis complex" OR "TSC" OR "TSS" |
*Williams syndrome (WS) | "William*" OR "William* syndrome" OR "Beuren* syndrome" OR "Elfin Facies syndrome" OR "Hypercalcemia-Supravalvar Aortic Stenosis" OR "Infantile hypercalcemia" OR "Supravalvar aortic stenosis syndrome" OR "WBS" OR "Williams-Beuren* syndrome" OR "WMS" OR "WS" OR "WBS" |