Presentation
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]
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]
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]
Clinical data and outcomes are presented as by January l, 2015. [cttjournal.com]
Entire Body System
-
Short Stature
Here, we report on a patient previously diagnosed as probably having NBS, with microcephaly, mental retardation, 'bird-like' face, and short stature. [ncbi.nlm.nih.gov]
Definition A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. [uniprot.org]
stature 1 individual reported to-date Sensitivity to ionizing radiation Hannover; 2009 PMID 19409520 -- "Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder." [en.wikibooks.org]
The proband had short stature, microcephaly, dysmorphic features, a bird-like face, lack of eyelashes, macules on the chest, and skin infections since childhood. [funpecrp.com.br]
Also, it is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. [checkorphan.org]
-
Malnutrition
Besides all that, infectious changes of oral mucosa can be the reason of pain and malnutrition. Conclusion Our results suggest that there is a predisposition to pathological conditions in the oral cavity of NBS patients. [czytelniamedyczna.pl]
Respiratoric
-
Absent Tonsils
Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes. [bredagenetics.com]
Ears
-
Low Set Ears
[…] first 3 months of life; short stature; developmental delay; hypogammaglobulinemia diagnosed at age 6; at age 18 height was 129 cm, weight was 22.6 kg and, head circumference was 42 cm; birdlike facies with a prominent beaked nose and recessed chin; low-set [catalog.coriell.org]
[…] tract infections, oral aphthous lesion, absent circulating B and T cells and normal NK cells, microcephaly and other dysmorphic features, including prominent forehead, wide nasal bridge, deep-set eyes, long philtrum with thin upper lip, small chin, low-set [bredagenetics.com]
Patients with NBS present with very characteristic features like severe microcephaly, with receding forehead and retracted chin and low set ears. Skin abnormalities in the form of café au lait and vitiligo spots are also observed. [czytelniamedyczna.pl]
Musculoskeletal
-
Small Head
Signs and symptoms Virtually all patients with NBS have microcephaly, or a small head size (in the lower 3%), with about 75% having this feature present at birth. Young children with NBS show impaired growth. [encyclopedia.com]
Also, it is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. [checkorphan.org]
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size ( microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other [ghr.nlm.nih.gov]
Signs and symptoms A key feature of NBS is microcephaly, or a very small head. This problem is usually evident at birth, thought it may appear in the first year of life in some patients. [forgottendiseases.org]
Neurologic
-
Ataxia
Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively. [ncbi.nlm.nih.gov]
He is also the Editor of Molecular Mechanisms of Fanconi Anaemia, Molecular Mechanisms of Xeroderma Pigmentosum, Molecular Mechanisms of Ataxia Telangiectasia and Molecular Mechanisms of Cockayne Syndrome published by Landes Bioscience. [books.google.com]
Prevention - Ataxia telangiectasia variant V1 Not supplied. Diagnosis - Ataxia telangiectasia variant V1 Prognosis - Ataxia telangiectasia variant V1 Not supplied. [checkorphan.org]
RIDDLE syndrome appears therefore to partially overlap with ataxia telangectasia syndrome. [bredagenetics.com]
-
Cerebellar Ataxia
ataxia is absent; alphafoetoprotein levels are normal, in contrast to AT patients. craniofacial dysmorphy: progressive and severe microcephaly, "bird-like" face with prominent midface, long nose and receding mandible immunodeficiency: severe combined [atlasgeneticsoncology.org]
However, the first two do not have ocular motor abnormalities, cerebellar ataxia, or neuropathy. [tremorjournal.org]
-
Meningism
Patients may later develop life-threatening infections leading to generalized sepsis like meningitis, pneumonia, cellulitis, empyema or septic arthritis. [bredagenetics.com]
Treatment
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]
He is also investigating photolysis of non‐biological compounds such as 8‐methoxypsoralen UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia. [books.google.com]
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]
You can help by adding to it. ( April 2017 ) Treatment [ edit ] There is no treatment for NBS, however in those with agammaglobulinemia, intravenous immunoglobulin may be started. [en.wikipedia.org]
Prognosis
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]
Etiology
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]
Epidemiology
[…] 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]
Pathophysiology
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
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]
Prophylactic antibiotics are considered to prevent urinary tract infections as those with NBS often have congenital kidney malformations. [en.wikipedia.org]