The present family provides the first evidence for involvement of HDAC8 in a syndromic form of intellectual disability. [jmg.bmj.com]

Acronym WTS Synonyms Mental retardation X-linked syndromic 6 Mental retardation X-linked with gynecomastia and obesity MRXS6 Wilson-Turner syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational [uniprot.org]

The present family provides the first evidence for involvement of HDAC8 in syndromic intellectual disability. [less] [trace.ddbj.nig.ac.jp]

• Short Stature

  Gonadal agenesis and short stature are the main features in the surviving infants. [icd10data.com]

  During childhood, girls with Turner syndrome usually present with short stature. [3] In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. [emedicine.medscape.com]

  Definition A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. [uniprot.org]

• Epilepsy

  / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pointed chin - Preauricular / branchial tags / appendages - Prognathism / prognathia - Protruding lips - Round ear - Scoliosis - Seizures / epilepsy [csbg.cnb.csic.es]

  myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - 2 1 TBC1D24 - - 00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - 5 4 TBC1D24 - - 00318 - cancer [databases.lovd.nl]

  Epilepsy and central nervous system (CNS) tumors account for most of the cases. While neuropsychological abnormalities are more common, they need extensive battery of tests for the identification of specific conditions. [ruralneuropractice.com]

  It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013 ). [mendelian.co]

  A few females have been reported to develop epilepsy, which may be associated with signs of a generalized neuronal migration disorder resembling a subcortical band heterotopia on MRI. [rarediseases.org]

• Weight Gain

  […] to occur weight gain may continue past a set point normally regulated by the onset of puberty. [nature.com]

• Developmental Disorder

  At least 28 mutations in the HDAC8 gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. [ghr.nlm.nih.gov]

• Failure to Thrive

  It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013 ). [mendelian.co]

  Affected infants may also have diminished muscle tone (hypotonia), a smaller head circumference than would be expected for an infant’s age and sex (microcephaly), and may experience feeding difficulties resulting in failure to thrive. [rarediseases.org]

• Hypertension

  Only 1 of the 5 patients with ambulatory hypertension was categorized as hypertensive using manual BP measurements. Twelve subjects (52%) had nocturnal hypertension. [karger.com]

  […] hypertrichosis / Increased body hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular length / shape of fingers - Long / large ear - Lymphedema - Maternal hypertension [csbg.cnb.csic.es]

  Truncal obesity is associated with atherosclerotic heart disease and an increased risk of acute myocardial infarction, hypertension, hypercholesterolemia, diabetes, and increased blood pressure in the kidneys with an increased risk of kidney disease over [onionriverchiro.com]

  Adults with TS have excessive rates of osteoporosis, hypertension, dyslipidemia and diabetes mellitus and may have increased morbidity and mortality as a result. [clinicaltrials.gov]

  It is important to note that the risk of hypertension is increased 3-fold in patients with Turner syndrome. [susans.org]

• Heart Disease

  Truncal obesity is associated with atherosclerotic heart disease and an increased risk of acute myocardial infarction, hypertension, hypercholesterolemia, diabetes, and increased blood pressure in the kidneys with an increased risk of kidney disease over [onionriverchiro.com]

  Patients also do not develop ovaries and are sterile, Turners patients suffer from numerous complications including heart disease, hypothyroidism, diabetes mellitus, vision problems and hearing problems. [house.wikia.com]

  Congenital heart disease needs to be explored in every female newly diagnosed with Turner syndrome. [susans.org]

  One factor in the development of hypertension in TS is structural heart disease. The 3 subjects with severe ambulatory hypertension had structural heart defects indicating that this is an important risk factor. [karger.com]

  Estrogen may also play a role in memory and mood and have a protective effect against heart disease. [clinicaltrials.gov]

• Jaundice

  HDAC8, numerous others Multiple CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Coloboma, downslanting palpebral fissures XLR IGBP1 #300472 COSTEFF SYNDROME Optic atrophy AR OPA3 - CRIGLER-NAJJAR GILBERT SYNDROME Jaundice [eyewiki.aao.org]

• Pruritus

  Cataract Hyperhidrosis Brachydactyly Hyperkeratosis Abnormality of the hair Erythema Alopecia Generalized hyperkeratosis Hypertrichosis Hirsutism Narrow nose Misalignment of teeth Cognitive impairment Flexion contracture Blindness Developmental regression Pruritus [mendelian.co]

• Small Hand

  Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thick eyebrow Bushy [rarediseases.info.nih.gov]

  hand / acromicria - Small / hypoplastic / adherent / absent ear lobe - Spindle shaped fingers - Striae - Synophris / synophrys - Tapered fingers - Thick / bushy eyebrows - Thick / wide ear lobe - Umbilical hernia - Undescended / ectopic testes / cryptorchidia [csbg.cnb.csic.es]

  Signs and symptoms in affected males include severe intellectual disability, short stature, obesity, breast enlargement (gynecomastia), reduced production of sex hormones (hypogonadism), an unusually small head, small hands, and distinctive facial features [ghr.nlm.nih.gov]

  hands and feet, eye/vision anomalies, and global developmental delay. 6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16 Related symptoms: Global developmental delay Short stature Microcephaly [mendelian.co]

• Confusion

  […] hormone replacement therapy. [26] See also Gonadal dysgenesis, for related abnormalities, Other human sex chromosome aneuploids: XYY syndrome, Klinefelter's syndrome (XXY), Triple X syndrome, Dermatoglyphics, Noonan syndrome, a disorder which is often confused [susans.org]

  See also Other human sex chromosome aneuploids : XYY syndrome, Klinefelter syndrome (XXY), Triple X syndrome, Dermatoglyphics, Noonan syndrome, a disorder which is often confused with Turner syndrome because of several physical features that they have [checkrare.com]

• Tremor

  Gunn （1850-1909） Scottishophthalmologist Marek マレック Marek's disease virus マレック病ウイルス Marfan マルファン Marfan's syndrome マルファン症候群 AntoineBernard-Jean Marfan （1858-1942） French pediatrician Marie マリー Marie's ataxia マリー運動失調症 Marie-Kahler マリー・カーレル Marie-Kahler tremor [jams.med.or.jp]

• Phenylketonuria

  […] acyl-CoA oxidase deficiency 264470 PEX1 Peroxisome biogenesis disorder 1A (Zellweger) 214100 PEX10 Peroxisome biogenesis disorder 6A (Zellweger) 614870 PEX7 Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I 614879; 215100 PAH Phenylketonuria [qgenomics.com]

  […] strabismus AD FGFR1, FGFR2 #101600 PHACE ASSOCIATION Optic nerve hypoplasia, microphthalmos, exophthalmos, choroidal hemangiomas, colobomas, cryptophthalmos, microphthalmos, strabismus, posterior embryotoxon, Horner syndrome, strabismus, cataracts - - 606519 PHENYLKETONURIA [eyewiki.aao.org]

See Workup for more detail. Management Patients with Turner syndrome require screening for commonly associated chronic diseases. [emedicine.medscape.com]

Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]

Treatment for female hypogonadism If you’re female, your treatment will involve increasing your amount of female sex hormones. Your first line of treatment will probably be estrogen therapy if you’ve had a hysterectomy. [healthline.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Patients will undergo the following procedures before beginning treatment and at 6, 12 and 24 months after starting treatment: Physical examination. DEXA scans (dual energy X-ray absorptiometry) to measure body composition and bone thickness. [clinicaltrials.gov]

This increase was unaffected by GH treatment. [nature.com]

Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]

The prognosis for Wolff-Parkinson-White syndrome is excellent. Discussion with your physician can help navigate the treatment options that are available. [medicinenet.com]

[…] in spite of growth hormone therapy and life expectancy is slightly less than normal, the overall prognosis for girls and women with Turner Syndrome is good. [qldpaedendocrinology.com.au]

Proteomic biomarkers and epigenomic signatures may help in the prediction, early diagnosis, and prognosis of CNS disorders. [clinical-epigenetics.imedpub.com]

Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]

[…] divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies [books.google.com]

Further studies are required to know the true incidence and the etiology of this association. How to cite this article: Patil M, Maske M, Joshi J M. Bronchiectasis in Turner's syndrome. [lungindia.com]

Etiology The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene (Xq13). [rarediseases.info.nih.gov]

[…] intracerebral hemorrhage [49] and stroke-like symptoms. [50] A case of vertebral artery dissection in TS presenting as cervical radiculopathy is reported. [51] Although few cases of cerebral hemorrhage are reported, hypertension was associated with and possible etiology [ruralneuropractice.com]

X-linked intellectual deficit - gynecomastia - obesity Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Pérusse's research has focused on the genetic epidemiology of various determinants of physical fitness. [books.google.com]

Epidemiology Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family. [rarediseases.info.nih.gov]

Epidemiology [ edit ] This disorder affects all demographics equally. The two families that were studied are of European ancestry. [en.wikipedia.org]

Her major areas of medical research concern viral diseases of children, especially respiratory viruses, as well as other viral infections, such as HHV6 and HHV7, immunizations and epidemiology. Reviewed 11/3/2010 Copyright 2012 Caroline B. [rosepediatrics.com]

"Gynaecomastia—pathophysiology, diagnosis and treatment". Nature Reviews Endocrinology. 10 (11): 684–698. doi : 10.1038/nrendo.2014.139. PMID 25112235. ^ Cordova, Adriana; Moschella, Francesco (2008). [en.wikipedia.org]

Prevention - Wilson-Turner X-linked mental retardation syndrome Not supplied. Diagnosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]

Overweight and obesity, as well as their related noncommunicable diseases, are largely preventable. [who.int]

This research is focused on developing effective vaccines to prevent RSV and to prevent infection with some of the other respiratory viruses, such as the parainfluenza and influenza viruses. [rosepediatrics.com]

Can Wolff-Parkinson-White syndrome be prevented? Wolff-Parkinson-White syndrome cannot be prevented, but can be treated in the vast majority of people. [medicinenet.com]

The NCARDRS helps scientists look for better ways to prevent and treat Turner syndrome. You can opt out of the register at any time. Page last reviewed: 14/05/2018 Next review due: 14/05/2021 [nhs.uk]