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Primrose Syndrome


Presentation

  • The patient experienced cryptorchidism, a birth defect where one of the testes is not present at birth, that may have played a part in the formation of the tumor.In 2010, another similar case was studied extensively by Dalal et al.[en.wikipedia.org]
  • A review of literature pertaining to calcification of the external ears is presented.[doi.org]
  • All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability.[ncbi.nlm.nih.gov]
  • ORPHA:3042 Synonym(s): Primrose syndrome Prevalence: Inheritance: - Age of onset: Infancy , Childhood ICD-10: Q87.8 OMIM: 259050 UMLS: C0796121 MeSH: - GARD: 4488 MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism.[ncbi.nlm.nih.gov]
Short Stature
  • Hermann , Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature , Clinical Dysmorphology , 10.1097/MCD.0000000000000244 , 28 , 1 , (41-45) , (2019) . Ruth Cleaver, Jonathan Berg, Emily Craft, Alison Foster, Richard J.[doi.org]
  • Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. In most cases intelligence is normal, but some may show mental retardation.[bredagenetics.com]
Ptosis
  • […] pinnae-myopathy syndrome Disease definition Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis[orpha.net]
  • . – Myhre syndrome: caused by mutation in SMAD4 – Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): caused by FOXL2 mutations – Neu-Laxova syndrome 1: PHGDH mutation – Pallister-Hall syndrome: GLI3 mutation – Galloway-Mowat syndrome: WDR73[bredagenetics.com]
Hearing Impairment
  • The patient was a mentally retarded 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage.[en.wikipedia.org]
Ataxia
  • Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.[orpha.net]
  • The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or mental retardation, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others (likely due, in part, to calcification[en.wikipedia.org]
  • Overview Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia[diseaseinfosearch.org]
  • […] intellectual disability Neurological symptoms including brain calcifications, partial or complete absence of the structure that connects the two hemispheres of the brain ( agenesis of the corpus callosum ) muscle wasting, and problems with coordination ( ataxia[rarediseases.info.nih.gov]

Treatment

  • The cause is currently unknown and there are no known treatments.[en.wikipedia.org]
  • 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]
  • Treatment is supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • Holistic researchers are using evening primrose oil, vitamin C, magnesium, a sugar-free diet, treatment for a Canadidan albicans infection and other procedures to deal with CFS.[prohealth.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • This paper exemplifies our work on developing reliable omics-based predictors for diagnosis and prognosis.[dtls.nl]
  • Prognosis With proper diagnosis and treatment, most PCOS symptoms can be adequately controlled or eliminated. Infertility can be corrected and pregnancy achieved in most women although, in some, hormonal disturbances and anovulation may recur.[medical-dictionary.thefreedictionary.com]
  • Correlation of matrix metalloproteinases and tissue inhibitors of matrix metalloproteinase expression in ileal carcinoids, lymph nodes and liver metastasis with prognosis and survival. Neuroendocrinology 2009; 89 (1): 66-78.[braun-hno.de]

Etiology

  • Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • In the patients the authors have seen, however, neither etiology nor treatment has been this straightforward. Powered by Soroush Sabzi, PCHelperTeam.com - TeXource.com[bermansexualhealth.com]
  • Tucker emphasized study of the "clinical course" of the disorder in guiding the diagnostic process to neurobehavioral etiologies.[internationalbrain.org]

Epidemiology

  • 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2]. 3 Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. 4 Department of Clinical Epidemiology[ncbi.nlm.nih.gov]
  • 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]
  • Bert Redeker & Raoul C Hennekam Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.[nature.com]
  • Relevant External Links for ZBTB20 Genetic Association Database (GAD) ZBTB20 Human Genome Epidemiology (HuGE) Navigator ZBTB20 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZBTB20 No data available for Genatlas for ZBTB20 Gene Identification[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • In Omega-6 Essential Fatty Acids: Pathophysiology and roles in clinical medicine, Alan R Liss, New York, 1990, 421–426. Douglas S. " Premenstrual syndrome. Evidence-based treatment in family practice ." Can Fam Physician. 2002 Nov; 48: 1789–1797.[verywell.com]
  • This complement of pathophysiologic mechanisms operates synergistically to move individuals with TBI toward either recovery or to neuropsychiatric morbidity.[internationalbrain.org]
  • Anticonvulsants Kindling and impaired electroencephalophysiology have been suggested to play a role in the pathophysiology of PMDD. Levetiracetam is a novel antiepileptic drug that has shown strong antikindling activity in animal models of epilepsy.[emedicine.medscape.com]
  • Critical evaluation of nutritional factors in the pathophysiology and treatment of premenstrual syndrome. Clin Obstet Gynecol . 1992;35:679–92. 22. Seelig MS.[aafp.org]

Prevention

  • Natural Prevention and Healing of Asherman’s Syndrome Systemic Enzyme Therapy for Scar Tissue Prevention Systemic Enzyme Therapy using systemic enzymes helps the body to break-down and prevent scar tissue formation.[natural-fertility-info.com]
  • There have been known benefits of green tea such as aiding in losing weight and helps in the prevention of eye disease and protects the vision.[earthclinic.com]
  • It helps to restore the balance of hormones and thus, prevents the symptoms.[ayurtimes.com]
  • Other than that, EPO is not believed to have any negative side effects and is valuable in reducing inflammation and preventing Alzheimer's disease.[dsdaytoday.blogspot.com]
  • Evening Primrose oil 1000mg is a traditional supplement that is recognised by health practitioners as one of the most sensational preventative discovery’s since vitamin C.[zestlife.co.uk]

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