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Watson Syndrome

NFNS


Presentation

  • Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations.[books.google.com]
  • Acronym WTSN Synonyms Pulmonary stenosis with cafe-au-lait spots Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice.[whonamedit.com]
  • (c)-au-lait spots are frequently present. The head is relatively large compared to other bodily proportions. A few individuals have small nerve tumors and small growths on the iris, the colored part of the eye that forms the pupil.[disorders.eyes.arizona.edu]
Short Stature
  • Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported. We have had the opportunity to review members of three of these four families.[ncbi.nlm.nih.gov]
  • Characterized by pulmonary valvular stenosis, café-au-lait spots, low-normal intelligence, and short stature. Patients have short stature.[accessanesthesiology.mhmedical.com]
Pulmonary Valve Stenosis
  • VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY.[fpnotebook.com]
  • valve stenosis, short stature, mild intellectual handicap, café-au-lait patches Cardio-facio-cutaneous syndrome lot of overlap and debate about whether same condition, but MR more severe, skin findings hyperkeratosis, ichthyosis, absent eyebrows, sparse[en.wikibooks.org]
  • Cardiac Pulmonary valve stenosis, hypertrophic cardiomyopathy, and/or electrocardiographic results typical of Noonan syndrome Other defect 3. Height 3rd percentile 10th percentile 4. Chest wall Pectus carinatum/excavatum Broad thorax 5.[aafp.org]
Pallister-Hall Syndrome
  • […] links [ edit ] Classification D ICD - 10 : Q87.1 OMIM : 193520 MeSH : D009456 DiseasesDB : 32244 v t e Phakomatosis ( Q85, 759.5–759.6 ) Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma ( PallisterHall[en.wikipedia.org]
Failure to Thrive
  • Infants often show failure to thrive and older children may have difficulty in school.[medical-dictionary.thefreedictionary.com]
  • Behavioral characteristics include failure to thrive in infancy (40%), motor developmental delay (20%), learning disability (15%), language delay (20%), mild hearing loss (12%), and mild mental retardation (up to 35%).[indianpediatrics.net]
  • Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity[aafp.org]
  • Hirschsprung disease can eventually cause diarrhea, dehydration, and failure to grow and gain weight at the expected rate (failure to thrive). Short stature is common in MWS, although some people have normal stature.[rarediseases.org]
Dry Eyes
  • Stevens-Johnson Syndrome Complications People who suffer from SJS may experience: arthritis asthma chronic fatigue syndrome chronic obstructive pulmonary disease (COPD) dry-eye syndrome lung damage permanent blindness permanent loss of nail beds photophobia[cwcd.com]
Hearing Impairment
  • In cases classified as infection only, if any compatible signs or symptoms (e.g., hearing impairment) are identified later, the case is reclassified as confirmed.[cdc.gov]
  • Hearing impairment . Umbilical hernias and inguinal hernias . Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info]
Axillary Freckling
  • Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation. Large lesions should be measured along the longest axis.[checkorphan.org]
  • Axillary freckling less common. They may rarely have macrocephaly, cognitive disabilities, and several congenital malformations such as Noonan-like facies, pectus excavatum/carinatum, and lipomas.[dermnetnz.org]
Eczema
  • Use cautiously with a history of eczema. Avoid if pregnant or breastfeeding. Thyme : Thyme has been used medicinally for thousands of years.[livingnaturally.com]
  • Severe eczema in a patient with DiGeorge's syndrome. Cutis. 1990 ; 45 : 455 -459. FDA Proposed Rule: Suitability determination for donors of human cellular and tissue-based products.[bloodjournal.org]
Angiomatosis
  • External links [ edit ] Classification D ICD - 10 : Q87.1 OMIM : 193520 MeSH : D009456 DiseasesDB : 32244 v t e Phakomatosis ( Q85, 759.5–759.6 ) Angiomatosis Sturge–Weber syndrome Von Hippel–Lindau disease Hamartoma Tuberous sclerosis Hypothalamic hamartoma[en.wikipedia.org]
Facial Edema
  • edema, hepatitis, and eosinophilia; mucous membranes are not affected Individuals can be affected by these conditions at any age.[cwcd.com]
Anger
  • Hostages abused by captors typically feel anger towards them and do not usually develop the syndrome (Although, it is very true that Belle certainly feels anger towards the Beast, if refusing to go eat with him at the start of her capture is any indication[huffingtonpost.co.uk]
  • Hostages abused by captors typically feel anger towards them and do not usually develop the syndrome. (Belle certainly feels anger towards the Beast, if refusing to go eat with him at the start of her capture is any indication.[germmagazine.com]
Low Self-Esteem
  • The little girl I fostered however – Flip, who you’ll know about if you’ve already read SKIN DEEP – had very low self esteem. She had been bullied and was very much a victim.[caseywatson.co.uk]
Pelvic Pain
  • Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound[books.google.com]
Absent Deep Tendon Reflex
  • deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible and bulbous tip of the nose and in the fingers, varying degrees of foreshortening.[ibis-birthdefects.org]
Tantrums
  • This in turn affected her behaviours and she would tantrum like a toddler when she was frustrated. She also found it very difficult to account for anything she had done.[caseywatson.co.uk]
Neonate-Onset
  • Alagille syndrome A rare autosomal dominant multisystem disease of early (neonatal) onset which causes dysmorphia and is characterised by intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct.[medical-dictionary.thefreedictionary.com]

Workup

  • A clinical geneticist or genetic counselor familiar with Alagille syndrome should review the results of the workup of a parent or relative to try to determine the recurrence risk for the individual.[chop.edu]
Ovarian Mass
  • Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses).[books.google.com]

Treatment

  • Treatment Treatment Options: There is no known treatment for this condition but multidisciplinary management is recommended for isolated problems.[disorders.eyes.arizona.edu]
  • Treatment aims at managing the specific symptoms of an individual. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • At the same time, the treatments are aimed also at reducing the effects of the affected system.[medigest.uk]

Prognosis

  • Prognosis - Watson syndrome Not supplied. Treatment - Watson syndrome Not supplied. Resources - Watson syndrome Not supplied.[checkorphan.org]
  • Diagnosis and Prognosis: The diagnosis is most likely made by a pediatrician, perhaps in consultation with a neurologist and an ophthalmologist.[disorders.eyes.arizona.edu]
  • Prognosis ... ________________________________________________________________________________________________ Last Updated: 2008/3/6 ________________________________________________________________________________________________[ibis-birthdefects.org]
  • The syndrome carries a poor prognosis with most individuals not surviving beyond in utero or soon after birth.[radiopaedia.org]

Etiology

  • Sporadic and familial occurrences have been described subsequently depending on the underlying etiology.[dovepress.com]
  • Probable: An infant who does not have laboratory confirmation of rubella infection but has at least 2 of the following, without a more plausible etiology: cataracts or congenital glaucoma, congenital heart disease (most commonly patent ductus arteriosus[cdc.gov]
  • […] other surgeons of "stage IV" pancarpal arthritis observed in rare cases where radiolunate joint is affected validity of "stage IV" changes in SLAC wrist remains controversial and presence pancarpal arthritis should alert the clinician of a different etiology[orthobullets.com]
  • Other etiologies Other less common infectious etiologies, as well as noninfectious etiologies, are listed in Table 1. Because these other infectious and non-infectious etiologies are rare, no recommendations exist for their management.[aidsrestherapy.biomedcentral.com]
  • It was described by A.Cecil Alport in 1927. [1] Etiology Alport syndrome is a hereditary glomerular basement membrane disease as a result of mutations in the genes COL4A3/4/5. These genes encode the type IV collagen alpha 3-5 chains.[eyewiki.aao.org]

Epidemiology

  • You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message[orpha.net]
  • Epidemiologic classification of internationally-imported and US-acquired Congenital rubella syndrome cases will be classified epidemiologically as internationally imported or US-acquired, according to the source of infection in the mother, using the definitions[cdc.gov]
  • Many studies that reported an increased risk for siblings were performed before the current understanding of the epidemiology evolved.[pediatrics.aappublications.org]
  • Atypical mycobacterial IRIS Epidemiology In addition to TB, atypical mycobacteria are also frequently reported as causative pathogens in IRIS.[aidsrestherapy.biomedcentral.com]
  • Epidemiological studies have linked socioeconomic characteristics (income, education level and number of family members) with the incidence of chronic diseases 2.[scielo.br]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Alagille syndrome is an autosomal dominant disorder with variable expression. Associated abnormalities include those of the liver, heart, eye, skeleton, and kidneys and characteristic facial features.[reference.medscape.com]
  • […] the less common autosomal recessive and autosomal dominant variants. [2] General Pathology Individuals with Alport syndrome may develop hematuria, proteinuria, renal failure (edema and hypertension), hearing loss, lenticonus and retinal flecks. [1] Pathophysiology[eyewiki.aao.org]
  • The hypothesis that apnea is the pathophysiologic precursor to SIDS was first proposed in 1972. 10 Apnea documented by cardiorespiratory monitoring during prolonged hospitalizations was reported for 2 infants, both of whom were siblings of 3 infants who[pediatrics.aappublications.org]
  • EMH was responsible for sections on pathophysiology and genetics. MC was responsible for sections on postnatal care and prognosis. The authors report no conflicts of interest in this work. 1. Kowalczyk B, Felus J.[dovepress.com]

Prevention

  • Prevention - Watson syndrome Not supplied. Diagnosis - Watson syndrome Review the patient’s history for seizures, frequent fractures, or mental retardation. Inspect the skin, noting the location and pattern of the spots.[checkorphan.org]
  • This then results in bile build ups & scarring which prevents the proper elimination of wastes in the blood. Usually the child inherits the altered gene from one parent although there are cases wherein the patient develops mutations of the gene.[signssymptoms.org]
  • This then results in bile build ups and scarring which prevents the proper elimination of wastes in the blood. Usually the child inherits the altered gene from one parent although there are cases wherein the patient develops mutations of the gene.[medigest.uk]
  • Prevention of bacterial endocarditis. Recommendations by the American Heart Association. JAMA 1990; 264: 2919–22. PubMed CrossRef Google Scholar 5. Ralston DH, Shnider SM . The fetal and neonatal effects of regional anesthesia in obstetrics.[link.springer.com]
  • Tomashek, MD Centers for Disease Control and Prevention Linda L.[pediatrics.aappublications.org]

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