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]

• Fishing

  Typical facies characterized by micrognathia, epicanthal folds, prominent low set or deformed ears, a fish-like mouth, ptosis may be seen [1]. 10-20% of patients have coarctation of aorta while other associated conditions include renal malformation, pigmented [lungindia.com]

  […] corneal erosions AD TGFBI #121820 FABRY DISEASE (HEREDITARY DYSTOPIC LIPIDOSIS) Corneal opacities (cornea verticillata), retinal vessel tortuosity, cataracts X-linked GLA #301500 FAMILIAL DYSAUTONOMIA Alacrima, Diminished corneal reflex AR IKBKAP #223900 FISH-EYE [eyewiki.aao.org]

• Weight Gain

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

• Hunting

  Queckenstedt クエッケンシュテット Queckenstedt's test クエッケンシュテット試験 Quincke クインケ Quincke pulse クインケ拍動 HeinrichIrenaeus Quincke （1842-1922） German internist Ramsay Hunt ラムゼイ　ハント Ramsay Hunt's syndrome ラムゼイ　ハント症候群 JamesRamsay Hunt （1872-1937） American neurologist [jams.med.or.jp]

• 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]

• Aggressive Behavior

  […] abnormality Aggressive behavior Hypermetropia Chorea Choreoathetosis Focal segmental glomerulosclerosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Pica Motor delay Optic atrophy Diffuse mesangial sclerosis Glomerulosclerosis Short nose [mendelian.co]

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]