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Primrose Syndrome


Presentation

  • The deletion was not present in the patient's mother's DNA sample, but the father's DNA was unavailable. Currently there are no known treatments. There have been very few reported cases of Primrose syndrome worldwide.[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]
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]
Narrow Face
  • It can include: long narrow face with facial dysmorphisms, congenital cataract, blepharophimosis, dental anomalies, syndactyly, cardiopathy, cleft palate, renal and genital anomalies, micorcephaly.[bredagenetics.com]
Cryptorchidism
  • It remains as yet uncertain whether an increased risk to malignancies forms part of this syndrome or is only a consequence of cryptorchidism in this patient.[ncbi.nlm.nih.gov]
  • 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]
  • 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. [8] In 2010, another similar case was studied extensively by Dalal et al.[en.wikipedia.org]
Cerebral Calcification
  • Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.[orpha.net]
  • A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum.[ncbi.nlm.nih.gov]
  • The Primerose syndrome with progressive neurological involvement and cerebral calcification. J Neurol. 2002; Primrose Syndrome. Online Mendelian Inheritance in Man (OMIM). August 8, 2016; .[rarediseases.info.nih.gov]
  • The Primrose syndrome with progressive neurological involvement and cerebral calcification Battisti, C; Dotti, MT; Cerase, A; Rufa, A; Sicurelli, F; Scarpini, C; Federico, A Additional features of unique Primrose syndrome phenotype Carvalho, DR; Speck‐Martins[deepdyve.com]
Learning Difficulties
  • Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities.[en.wikipedia.org]

Treatment

  • The cause is currently unknown and there are no known treatments.[en.wikipedia.org]
  • Treatment is supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.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]
  • 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]
  • 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]

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]

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]
  • 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]
  • Contact Details Organisation AMC, Department of Clinicial Epidemiology, Biostatistics and Bioinformatics (KEBB) Address Meibergdreef 9, 1105 AZ Amsterdam Contact person Prof. dr.[dtls.nl]
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]
  • 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]

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]
  • 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]
  • It helps to restore the balance of hormones and thus, prevents the symptoms.[ayurtimes.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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