Acronym NBSLD Synonyms Microcephaly and spontaneous chromosome instability without immunodeficiency NBS-like disorder RAD50 deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes [uniprot.org]

Facial features in a 13.5 years-old male with NBS. a) Front presenting microcephaly, low and narrow forehead, prominent phlitrum and large ears. b) Lateral view presenting microcephaly and receding mandible. Fig. 2. [czytelniamedyczna.pl]

In conclusion, myoclonus can be a predominant or presenting feature in AT, even without dystonia. [tremorjournal.org]

He has edited more than 10 books, has presented more than 350 lectures/posters in congresses/meetings, and has published more than 500 articles in the international scientific journals during last decade. [books.google.com]

Clinical data and outcomes are presented as by January l, 2015. [cttjournal.com]

• Delayed Speech Development

  […] ovarian insufficiency in females Delayed puberty in both boys and girls Areas of abnormal skin pigmentation Syndactyly (fingers or toes fused) Delayed speech development Infertility in both sexes Low birthweight Short stature Sparse hair Facial features [forgottendiseases.org]

• Overeating

  She opted to pursue our IMG Universal Screening panel that determines carrier status for over 75 autosomal recessive and X-linked conditions. [insightmedicalgenetics.com]

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  Skills decline over time, and most affected children and adults have mild to moderate intellectual disability. [ghr.nlm.nih.gov]

• No Speech Development

  […] ovarian insufficiency in females Delayed puberty in both boys and girls Areas of abnormal skin pigmentation Syndactyly (fingers or toes fused) Delayed speech development Infertility in both sexes Low birthweight Short stature Sparse hair Facial features [forgottendiseases.org]

There are no specific treatment protocols designed for patients with NBS and NHL. Due to the higher risk of treatment-related toxicity, there is a common tendency to modify treatment by reducing dosage of some chemotherapy agents. [cttjournal.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]

Then all pathologic changes as gingivitis, dental caries, candidiasis will complicate treatment and aggravate to the treatment related complications. [czytelniamedyczna.pl]

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. [diseaseinfosearch.org]

Treatment - Ataxia telangiectasia variant V1 There is no specific treatment/therapy for NBS. Resources - Ataxia telangiectasia variant V1 [checkorphan.org]

Diagnosis - Ataxia telangiectasia variant V1 Prognosis - Ataxia telangiectasia variant V1 Not supplied. Treatment - Ataxia telangiectasia variant V1 There is no specific treatment/therapy for NBS. Resources - Ataxia telangiectasia variant V1 [checkorphan.org]

There was no real prognosis and the known factors of this condition are microcephaly, learning difficulties, vitiligo, x-ray sensitivity, facial similarities, growth issues, non working ovaries and the biggest common factor is cancer. [rarediseaseday.org]

Higher hyperdiploidy (51-65 chromosomes) is usually associated with low-risk features and is reported to have a good prognosis (Moorman et al., 2003; Harrison et al., 2004). [funpecrp.com.br]

A ventriculoperitoneal shunt can be placed in patients with hydrocephaly, and surgical intervention of congenital deformities is also attempted. [10] Prognosis [ edit ] A review from 2000 stated that life expectancy was reduced because of a tendency to [en.wikipedia.org]

Prognosis Patients with NBS have a decreased life span because of the tendency toward infection and cancer. Of the 55 patients in the NBS registry described in 2000, five had died from infections between infancy and eight years of age. [encyclopedia.com]

It is well known, that dental plaque is important etiologic factor of developing periodontal disease and dental caries. [czytelniamedyczna.pl]

The principal diseases in this group having a diverse etiology and clinical manifestations include Fanconi anemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), Bloom syndrome (BS), xeroderma pigementosum (XP), Cockayne syndrome [indianpediatrics.net]

To understand the etiology of genetic disorders, reverse genetics in human... [researchmap.jp]

[…] increased frequency of the pathogenic c.657_661del5 variant in NBN has been observed in several different cancers including breast cancer, prostate cancer, medulloblastoma, and melanoma, suggesting that pathogenic variants in NBN might play a role in the etiology [ncbi.nlm.nih.gov]

Hum Pathol 1997;28:428-433 37) Benson MD, Kobayashi H, Silver RK, et al:Evidence of an immunologic etiology for amniotic fluid embolism. [molcom.jp]

[…] immunodeficiency - lymphoreticuloma - NBS - Seemanova syndrome type 2 Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare oncologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

(G200), German Cancer Research Center (DKFZ), Heidelberg, Germany Benedikt Brors Department of Pediatric Immunology, Hematology and Oncology, University Hospital, Heidelberg, Germany Daniel Hubschmann Institute for Medical Informatics Statistics and Epidemiology [blog.livedoor.jp]

Acta Obstet Gynecol Scand 1977;56:247-253 2) FIGO:Report ofthe FIGO subcommittee on perinatal epidemiology and health statistics following a workshop in Cairo, Nov 11-18, 1984. 1986;p54. FIGO, London 3) ACOG:ACOG criteria set, Postterm pregnancy. [molcom.jp]

One main conceptual step forward was made with the discovery of NBS1 and the understanding of its critical pathophysiological role in Nijmegen breakage syndrome. Major efforts were carried out to define the role in DNA repair of this complex. [cancerindex.org]

Prevention - Ataxia telangiectasia variant V1 Not supplied. Diagnosis - Ataxia telangiectasia variant V1 Prognosis - Ataxia telangiectasia variant V1 Not supplied. [checkorphan.org]

Repairing DNA prevents cells from accumulating genetic damage that can cause them to die or to divide uncontrollably. [ghr.nlm.nih.gov]

Similarly, vitamin E is recommended for prevention of further cell damage. For treatment of cancer, high doses of radiation must be avoided, since the damage inflicted on the cells could be fatal. [encyclopedia.com]

In NBS patients, very important is effective prevention and treatment of dental caries andperiodontal disease. [czytelniamedyczna.pl]

Meanwhile, life-long monitoring of the immune system allows for preventive measures and maintains the patients in good clinical condition for a long time. [cttjournal.com]