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Moynahan Syndrome

Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Last updated July 9, 2017 The affected individuals require treatment by a team of endocrinologists, cardiologists, urologists, dermatologists, and other specialists depending on their presentations (signs and symptoms).[dovemed.com]
  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.com]
  • In female patients, this presents as missing or single ovaries, much harder by nature to detect. Ultrasound imaging is performed at regular intervals, from the age of 1 year, to determine if ovaries are present.[en.wikipedia.org]
  • Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section.[books.google.com]
Alopecia
  • Moynahan alopecia syndrome, Moynahan syndrome Overview A rare condition characterized by alopecia, epilepsy, mental retardation and a small head.[checkorphan.org]
  • , Prognosis, and Risk Factors for Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Screening Laboratory Tests and Diagnostic Procedures for Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Treatment Options, Medications, and Management of Alopecia[theteamwork.com]
  • […] mental retardation (mild to moderate) Skin Nails Hair Hair: alopecia sparse hair delayed hair growth Head And Neck Head: microcephaly Clinical features from OMIM: 203600 Human phenotypes related to Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan:[malacards.org]
  • […] areata Alopecia Congenita Keratosis Palmoplantaris Alopecia Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan alopecia universalis Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia Alopecia[rgd.mcw.edu]
  • Title Other Names: Moynahan alopecia syndrome; Moynahan syndrome; Alopecia-epilepsy-intellectual disability syndrome, Moynahan type Categories: This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
Sparse Hair
  • Accession 1 microcephaly 59 32 Frequent (79-30%) HP:0000252 2 intellectual disability 59 32 Very frequent (99-80%) HP:0001249 3 seizures 59 32 Frequent (79-30%) HP:0001250 4 alopecia 59 32 Very frequent (99-80%) HP:0001596 5 sparse hair 59 32 Frequent[malacards.org]
  • hair 0008070 5%-29% of people have these symptoms Hyperkeratosis 0000962 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 EEG abnormality 0002353 Showing[rarediseases.info.nih.gov]
  • Hair and Telangiectases GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 Glycosylphosphatidylinositol Deficiency Gomez Lopez Hernandez Syndrome Goniodysgenesis-Mental Retardation-Short Stature Syndrome Growth and Developmental Retardation, Ocular[rgd.mcw.edu]
  • Diseases related with Intellectual disability and Sparse hair In the following list you will find some of the most common rare diseases related to Intellectual disability and Sparse hair that can help you solving undiagnosed cases.[mendelian.co]
  • Hair-Mental Retardation-Seizures Syndrome Related: A Fetal Isotretinoin Syndrome Alopecia-Contractures-Dwarfism-Mental Retardation Syndrome[neo-genetics.com]
Speech Disorders
  • Disorder and with or without Mental Retardation Follicular Hamartoma, Alopecia, Cystic Fibrosis follicular mucinosis Fountain Syndrome Frontonasal Dysplasia 2 Frontonasal Dysplasia 3 Garret Tripp Syndrome Generalized Epilepsy Generalized Lipodystrophy[rgd.mcw.edu]
  • Additional features include short stature, scoliosis, headache, speech disorders, attention deficit disorder, attention-deficit/hyperactivity disorder and learning disabilities [Ferner et al., 2007; Jouhilahti et al., 2011].[karger.com]

Workup

  • A small number of patients with LEOPARD syndrome had an extensive cardiac workup using invasive and noninvasive techniques.[ajronline.org]

Treatment

  • Treatment - Alopecia epilepsy oligophrenia syndrome of Moynahan Generally, treatment of epilepsy consists of anticonvulsant therapy to reduce the number of future seizures. Resources - Alopecia epilepsy oligophrenia syndrome of Moynahan[checkorphan.org]
  • Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Brain specialists can provide treatment for the epileptic symptoms.[diseaseinfosearch.org]
  • Last updated July 9, 2017 The affected individuals require treatment by a team of endocrinologists, cardiologists, urologists, dermatologists, and other specialists depending on their presentations (signs and symptoms).[dovemed.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Categories: A October 27, 2017 Alopecia Epilepsy Oligophrenia Syndrome of Moynahan – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), October 27, 2017 Definition, Diagnosis, and Pathophysiology of Alopecia[theteamwork.com]

Prognosis

  • Prognosis - Alopecia epilepsy oligophrenia syndrome of Moynahan Not supplied.[checkorphan.org]
  • Oligophrenia Syndrome of Moynahan Causes, Evaluation, and Medical Assessment of Alopecia Epilepsy Oligophrenia Syndrome of Moynahan The Most Common Signs and Symptoms of Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Complications, Prevalence, Prognosis[theteamwork.com]
  • […] complications of hypertrophic cardiomyopathy or cardiac conduction defects Please find comprehensive information on LEOPARD Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • (Outcomes/Resolutions) The long term prognosis of Adams Oliver Syndrome is not described adequately due to the limited number of cases reported worldwide and limited extended follow-up of affected individuals However, the prognosis depends on the major[dovemed.com]
  • Prognosis Prognosis is determined mainly by cardiac complications. Most patients with LEOPARD syndrome lead a normal life.[emedicine.medscape.com]

Etiology

  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.de]
  • Current thinking is that the etiology for a pectus excavatum is an abnormality in costochrondral growth that may or may not reflect chronic mechanical stresses on the sternum and anterior costo-condral junctions.[clinicaladvisor.com]
  • Etiology and Pathogenesis The increased density of melanocytes in lentigines is presumably due to an underlying developmental or intrinsic defect in melanocyte homeostasis.[dermaamin.com]
  • ., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy).[reference.md]
  • Etiology and Pathophysiology In most individuals, NSML and Noonan syndrome (NS) are allelic disorders resulting from different missense mutations. 90% of these mutations are in the PTPN11 gene.[unboundmedicine.com]

Epidemiology

  • Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML. [4] Signs and symptoms [ edit ] An alternative[en.wikipedia.org]
  • Frequency No epidemiologic data are available.[emedicine.medscape.com]
  • Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease[books.google.es]
  • […] melanocytes (but no nests) in epidermal basal layer along rete ridges ( DermNet NZ ) Multiple lentigines: Associated with Peutz-Jeghers syndrome, centrofacial lentiginosis, Moynahan’s syndrome, LEOPARD syndrome, Carney’s syndrome and xeroderma pigmentosum Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Categories: A October 27, 2017 Alopecia Epilepsy Oligophrenia Syndrome of Moynahan – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), October 27, 2017 Definition, Diagnosis, and Pathophysiology of Alopecia[theteamwork.com]
  • Pathophysiology [ edit ] NSML is inherited in an autosomal dominant fashion, although it can also arise due to spontaneous mutation.[en.wikipedia.org]
  • Etiology and Pathophysiology In most individuals, NSML and Noonan syndrome (NS) are allelic disorders resulting from different missense mutations. 90% of these mutations are in the PTPN11 gene.[unboundmedicine.com]
  • LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare autosomal dominant disorder most often caused by missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP2. [1] Pathophysiology The term[emedicine.medscape.com]

Prevention

  • Categories: A October 27, 2017 Alopecia Epilepsy Oligophrenia Syndrome of Moynahan – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), October 27, 2017 Definition, Diagnosis, and Pathophysiology of Alopecia[theteamwork.com]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prevention - Alopecia epilepsy oligophrenia syndrome of Moynahan Not supplied. Diagnosis - Alopecia epilepsy oligophrenia syndrome of Moynahan Not supplied. Prognosis - Alopecia epilepsy oligophrenia syndrome of Moynahan Not supplied.[checkorphan.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]

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