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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[] "Joshua was constantly being tested and examined for many different conditions including Prader Willi.[] 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[]

  • Prader-Willi Syndrome

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

  • Angelman Syndrome

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

  • Mental Retardation

    Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations.[] 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[] Willie Syndrome) and their families, who meet eligibility criteria.[]

  • ROHHAD Syndrome

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

  • Adrenal Insufficiency

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

  • Endocrine Dysfunction

    No evidence of an autoimmune polyendocrine syndrome including hypoparathyroidism was found.[] In another example, a child with Prader-Willi syndrome may be missing all or part of chromosome 15, which affects growth, metabolism, and puberty.[] 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[]

  • Hypogonadism

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

  • 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[] 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[] PraderWilli syndrome: consensus diagnostic criteria . Pediatrics 1993; 91 :398–402. 5. Couper RTL . PraderWilli syndrome .[]

  • 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[] OBJECTIVE: The variable hypogonadism in Prader-Willi syndrome (PWS) has generally been attributed to hypothalamic dysfunction.[] Prader-Willi syndrome ( ICD-10-CM Diagnosis Code Q87.1 Congenital malformation syndromes predominantly associated with short stature 2016 2017 2018 2019 Billable/Specific[]

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