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344 Possible Causes for Midline Defects, Prader-Willi Syndrome

  • Hypogonadism

    Other manifestations include microphallus, cryptorchidism, midline defects, and unilateral kidney agenesis.[msdmanuals.com] ., Klinefelter syndrome, hemochromatosis, Kallmann syndrome, Prader-Willi syndrome, and mytonic dystrophy) can also cause low testosterone.[bumrungrad.com] Causes of secondary hypogonadism include: Congenital (the person is born with the condition): certain conditions, including Kallman’s syndrome, Prader Willi syndrome; idiopathic[my.clevelandclinic.org]

  • Mental Retardation

    Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.[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] The association of PHF8 with mental retardation and midline defects highlights the importance of this process, specifically during brain development and midline formation.[doi.org]

  • ROHHAD Syndrome

    Gruters A, Krude H, Biebermann H 2004 Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol 151 : U39–U44 14.[doi.org] ROHHAD and Prader-Willi syndrome (PWS): Clinical and genetic comparison. Orphanet journal of rare diseases, 13 (1), [124].[scholars.northwestern.edu] The discovery of a such developmental defect in a newborn should lead to cerebral MRI assessment of the hypothalamo-hypopituitary axis. (Table I. 2) Table I. 2.[mafiadoc.com]

  • SHOX-Related Short Stature

    Multiple syndromic or dysmorphic features: abnormal facies, midline defects, body disproportions. Bone age: delayed by more than two standard deviations.[patient.info] PraderWilli syndrome occurs in between 1 in 15,000 and 1 in 25,000 live births.[nice.org.uk] Midline defects, such as a single central incisor or cleft palate, may be present. 16 Children with congenital GHD may present with neonatal hypoglycemia, prolonged jaundice[cmecorner.com]

  • Scoliosis

    Abstract Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical[ncbi.nlm.nih.gov] Prader-Willi syndrome is diagnosed through genetic testing.[scoliosisassociates.com] The location is defined by the vertebra that is most deviated and rotated from midline, called the apical vertebra.[symptoma.com]

  • Hypogonadotropic Hypogonadism 3

    Occasionally the diagnosis is made earlier due to investigation of other associated anomalies, including: midline defects cleft lip and palate renal agenesis sensorineural[radiopaedia.org] Causes: Miscellaneous Prader-Willi Syndrome Obesity Short Stature Mild Mental Retardation Systemic Conditions Chronic gastrointestinal conditions Chronic Kidney Disease Gaucher's[fpnotebook.com] […] producing GRH–gonadotropin-releasing hormone; FSH and LH impairs sperm and androgen production Clinical Delayed puberty, micropenis, eunuchoid features, cryptorchidism, midline[medical-dictionary.thefreedictionary.com]

  • Familial Short Stature

    Multiple syndromic or dysmorphic features: abnormal facies, midline defects, body disproportions. Bone age: delayed by more than two standard deviations.[patient.info] Down syndrome, Prader-Willi syndrome, Fetal alcohol syndrome, Cornelia deLange syndrome, Russell-Silver syndrome Often defined or diagnosed based on the presence of other[pedclerk.bsd.uchicago.edu] Midline defects such as cleft palate may also be associated with panhypopituitarism or specific deficits in growth hormone or thyroid hormone production.[hawaii.edu]

  • Growth Hormone Deficiency

    Neonates who have congenital defects of the pituitary or hypothalamus may have hypoglycemia (which also can occur in older children), midline defects (eg, cleft palate), or[msdmanuals.com] […] factor defects (POU1F1/PIT-1, PROP-1, LHX3/4, HESX-1, SOX-3, and PITX-2) GHRH-receptor gene defects GH secretagogue receptor gene defects GH receptor/postreceptor defects Prader-Willi[unboundmedicine.com] Congenital GHD results from genetic error, and may be associated with brain structure defects or with midline facial defects such as a cleft palate or single central incisor[rarediseases.org]

  • Hypogonadotropic Hypogonadism 4

    Occasionally the diagnosis is made earlier due to investigation of other associated anomalies, including: midline defects cleft lip and palate renal agenesis sensorineural[radiopaedia.org] Causes: Miscellaneous Prader-Willi Syndrome Obesity Short Stature Mild Mental Retardation Systemic Conditions Chronic gastrointestinal conditions Chronic Kidney Disease Gaucher's[fpnotebook.com] It is characterized by congenital hypogonadotropic hypogonadism and anosmia, possibly with additional midline defects.[icd10data.com]

  • Kallmann Syndrome

    Abstract Kallmann syndrome (isolated hypogonadotropic hypogonadism) is associated with a number of midline defects, especially anosmia.[doi.org] In complex syndromic causes (mutations of CHD7, leptin and leptin receptor anomalies, Prader-Willi syndrome, etc.), diagnosis of the CHH cause is most often suspected or set[ncbi.nlm.nih.gov] They include three Prader-Willi syndrome, three DiGeorge syndrome, one Williams syndrome, one Miller-Dieker syndrome and one Kallmann syndrome.Blood samples from the patients[medicineandhealthukm.com]

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