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Genee-Wiedemann Syndrome

Miller Syndrome


Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Cleft palate was present in nine out of 10 cases, cleft lip only in two cases.[jomfp.in]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Added physical problems might be present in many cases. Miller Disorder is believed to be inherited as an autosomal recessive hereditary attribute.[valleyfamilymedicineurgentcarecenter.com]
  • In addition to As with the first edition, our goal is to present a updating and revising the entire book, we have added comprehensive textbook of pediatric ophthalmology three new chapters: Chapter 7 on electrophysiology and strabismus written in a clear[books.google.com]
Progressive Mental Retardation
  • Clinical: Moderate progressive mental retardation; skeletal changes of dysostosis multiplex; peripheral neuropathy; myoclonic jerks; tremor; cerebellar signs ; gait abnormalities. Carta F, et al. Mucolipidosis 1: ocular signs in three sisters.[dentisty.org]
Skin Lesion
  • Molluscum Contagiosum 829 General: Etiologic agent of this disease is a poxvirus that can cause proliferative skin lesions anywhere on the body ; commonly found in patients who are immunosuppressed.[dentisty.org]
Localized Scleroderma
  • Localized scleroderma. Clin Dermatol 1994; 12:237-242. Maricq HR. Capillary abnormalities, Raynaud's phenomenon, and systemic sclerosis in patients with localized scleroderma. Arch Dermatol 1992; 128:630-632. Trevisan G, et al.[dentisty.org]
Cup-Shaped Ears
  • Rare diseases Search Search for a rare disease Postaxial acrofacial dysostosis Disease definition Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped[orpha.net]
  • Craniofacial malformations might consist of underdevelopment of the cheekbones (malar hypoplasia); an unusually little mandible (micrognathia); insufficient closure of the roofing of the mouth (cleft taste buds); little, sticking out, “cup-shapedears[valleyfamilymedicineurgentcarecenter.com]
  • Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities.[link.springer.com]
Delusion
  • Mirror Image Syndrome (Autoscopic Syndrome; Lukianowicz Phenomenon) 818 General: Patient's delusion that he or she is seeing a double of himself or herself; seen in patients with schizophrenia, epilepsy, migraine, and even depression; the "double" usually[dentisty.org]
Profound Mental Retardation
  • Reynolds, Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics, 31, 3, (701-703), (2005).[doi.org]
  • Reynolds , Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation, American Journal of Medical Genetics , 1988 , 31 , 3, 701 Wiley Online Library[onlinelibrary.wiley.com]
Papilledema
  • Ocular: Increased corneal thickness; wrinkled maculopathy; granular pigmentary changes of fundus; papilledema; hyperopic astigmatism; corneal opacities; retinal vascular tortuosity; visual field defects.[dentisty.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[resourcerepository.org]
  • Box 11082 Chattanooga, TN 37401 (800) 332-2373 email: faces@faces-cranio.org Provides financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need.[en.wikibooks.org]

Prognosis

  • Prognosis - Genee-Wiedemann syndrome Not supplied.[checkorphan.org]
  • The prognosis is poor, and these children undergo several surgeries during childhood to correct the facial and limb dysmorphisms.[radiologykey.com]
  • Prognosis Most patients with BWS have a normal life expectancy and generally do not develop serious medical problems in adulthood as a result of the condition.[emedicine.medscape.com]
  • […] abdominal wall defects and macroglossia; monitoring the glycemia during the first 3 days and early treatment of hypoglycemia (deleterious for central nervous system) is of importance to avoid further complications; frequent screening for tumour development Prognosis[atlasgeneticsoncology.org]

Etiology

  • Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet Part C Semin Med Genet 163C:283–294. INTERNET McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore.[rarediseases.org]
  • Morphea (Localized Scleroderma; Circumscribed Scleroderma) 835 General: Localized chronic connective tissue disease of unknown etiology; etiology remains unknown, although there is a possible association with Borrelia burgdorferi infection.[dentisty.org]
  • Journal Am J Med Genet 47:660-78 (1993) DOI: 10.1002/ajmg.1320470517 Reference PMID: 24123981 Authors Trainor PA, Andrews BT Title Facial dysostoses: Etiology, pathogenesis and management.[genome.jp]
  • Reports from the MHC data base Report from the Observation Chart (PDF) Synonyms EMG syndrome (Exomphalus umbilical hernia, Macroglossia enlarged tongue, Gigantism overgrowth) Codes ICD-10: Q87.3 ORPHA: 116 Estimated occurrence 5 - 10:100 000 live birts Etiology[mun-h-center.se]

Epidemiology

  • Mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome POADS Postaxial acrodysostosis Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Antenatal ICD-10: Q75.4 OMIM: 263750 UMLS: C0265257 MeSH: - GARD: 8410 MedDRA: - Summary Epidemiology[orpha.net]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • […] neoplasms; mainly Wilms tumor and hepatoblastoma Omphalocele / exomphalos Adrenocortical cytomegaly Renal abnormalities Neonatal hypoglycemia Terminology Beckwith syndrome Wiedemann-Beckwith syndrome Exomphalos, macroglossia, gigantism (EMG) syndrome Epidemiology[pathologyoutlines.com]
  • Epidemiology Frequency Incidence is estimated to occur in 1 in 10,500 live births in the general population. [6] As individuals with milder phenotypes often go undiagnosed, the incidence may be higher.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology 7.1. During fetal development this gene alteration causes increased production of insulin-like growth factor 2. 7.1.1. This over production contributes to the overgrowth features. 7.1.2.[mindmeister.com]
  • […] cytomegaly Renal abnormalities Neonatal hypoglycemia Terminology Beckwith syndrome Wiedemann-Beckwith syndrome Exomphalos, macroglossia, gigantism (EMG) syndrome Epidemiology Incidence of 1:13,700 births Occurs in a variety of ethnic populations M F Pathophysiology[pathologyoutlines.com]
  • Presentation of BWS occurs on a spectrum ranging from isolated asymmetry to classic features of BWS. [1] Pathophysiology Beckwith-Wiedemann Syndrome (BWS) is a pediatric cancer predisposition disorder caused by changes in the imprinted gene loci on chromosome[emedicine.medscape.com]

Prevention

  • 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]
  • Prevention - Genee-Wiedemann syndrome Not supplied. Diagnosis - Genee-Wiedemann syndrome The diagnosis of Beckwith-Wiedemann syndrome relies primarily on clinical findings.[checkorphan.org]
  • Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Seite 332 - Crane JP, LeFevre ML, Winborn RC, et al.[books.google.de]
  • Newborns with an omphalocele typically require surgery to place the abdominal contents back into the abdomen to prevent serious infection or shock.[jcnonweb.com]
  • The aim of the service is to prevent or resolve the problems associated with macroglossia and to enable the best functional outcome. Some children may require tongue reduction surgery .[gosh.nhs.uk]

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