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1,559 Possible Causes for Prader Willi, Syndrome

  • Laurence Moon Syndrome

    LAURENCE-MOON SYNDROME LNMS LAURENCE-MOON SYNDROME; LNMS edit English Laurence-Moon syndrome rare autosomal recessive genetic disorder associated with retinitis pigmentosa[wikidata.org] "Joshua was constantly being tested and examined for many different conditions including Prader Willi.[express.co.uk] TIPO I RN1030 PALLISTER-HALL, SINDROME DI RN0420 PALLISTER W, SINDROME DI SINDROME W DI PALLISTER RN0650 PARRY-ROMBERG, SINDROME DI ATROFIA EMIFACCIALE PROGRESSIVA RN1310 PRADER-WILLI[amaram.it]

  • Prader-Willi Syndrome

    Prader-Labhart-Willi syndrome PWS Willi-Prader syndrome Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.[web.archive.org] Prader-Willi Syndrome. 1998 Oct 6 [updated 2016 Feb 4].[ghr.nlm.nih.gov] Free diagnosis for PWS (if not available in your country) Prader-Willi syndrome is a multi-faceted and genetically-determined syndrome .[ipwso.org]

  • Angelman Syndrome

    Angelman syndrome.[symptoma.com] We report on a 32-y-old woman with Prader-Willi syndrome (PWS) and her daughter with Angelman syndrome (AS).[ncbi.nlm.nih.gov] Angelman and Prader-Willi Syndromes Figure 1: Andrew, a child with Angelman syndrome.[nature.com]

  • Mental Retardation

    Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations.[ncbi.nlm.nih.gov] The most common causes include: genetic conditions such as Down syndrome, fragile X syndrome, Williams syndrome and Prader Willi syndrome problems during pregnancy such as[web.archive.org] Willie Syndrome) and their families, who meet eligibility criteria.[dhss.delaware.gov]

  • ROHHAD Syndrome

    syndrome.[symptoma.com] ROHHAD is distinct from Prader-Willi syndrome. Exclusion Criteria: Patients with Prader-Willi syndrome.[ucalgary.ca] syndrome) Negative 1570 MAGEL2 gene (Prader-Willi syndrome) Negative 1575 IKBKAP gene testing (familial dysautonomia) Normal 1500 NSD1 gene sequencing (Sotos syndrome) Negative[doi.org]

  • Adrenal Insufficiency

    Abstract Background Individuals with Prader-Willi syndrome (PWS) have hypothalamic dysfunction and may have central adrenal insufficiency (CAI).[ncbi.nlm.nih.gov] Abstract Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder.[ncbi.nlm.nih.gov] Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome.[ncbi.nlm.nih.gov]

  • Endocrine Dysfunction

    No evidence of an autoimmune polyendocrine syndrome including hypoparathyroidism was found.[ncbi.nlm.nih.gov] In another example, a child with Prader-Willi syndrome may be missing all or part of chromosome 15, which affects growth, metabolism, and puberty.[hormone.org] The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial[ncbi.nlm.nih.gov]

  • Hypogonadism

    ., Klinefelter syndrome, hemochromatosis, Kallmann syndrome, Prader-Willi syndrome, and mytonic dystrophy) can also cause low testosterone.[bumrungrad.com] The basis of the ambiguous genitalia in XLAG syndrome is not well-known.[ncbi.nlm.nih.gov] Patients with Prader-Willi syndrome may be treated with human growth hormone. Several studies have shown this treatment is beneficial.[msdmanuals.com]

  • Neonatal Hypotonia

    Abstract The clinical features of Prader-Willi Syndrome (PWS) in the neonate are marked by hypotonia, absence of crying, and feeding difficulties, but the clinical nature[ncbi.nlm.nih.gov] During the neonatal period the diagnosis of the Prader-Willi syndrome (PWS) is difficult because the syndrome is expressed mainly by severe hypotonia at this age and the typical[ncbi.nlm.nih.gov] PraderWilli syndrome: consensus diagnostic criteria . Pediatrics 1993; 91 :398–402. 5. Couper RTL . PraderWilli syndrome .[nature.com]

  • Hypothalamic Dysfunction

    Abstract Nineteen males with a well-developed postconcussional syndrome were studied by CT-scan, by psychometric testing and by endocrinological evaluation including a variety[ncbi.nlm.nih.gov] OBJECTIVE: The variable hypogonadism in Prader-Willi syndrome (PWS) has generally been attributed to hypothalamic dysfunction.[ncbi.nlm.nih.gov] Prader-Willi syndrome ( ICD-10-CM Diagnosis Code Q87.1 Congenital malformation syndromes predominantly associated with short stature 2016 2017 2018 2019 Billable/Specific[icd10data.com]

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