Abstract We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. [unboundmedicine.com]

We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. [ncbi.nlm.nih.gov]

Features present in all patients were: microcephaly decreased size of frontal lobes and narrow frontal horns of the lateral ventricles sinusitis as a result of primary immunodeficiency Features present in some patients were: agenesis of the posterior [radiopaedia.org]

Treatment [ edit ] There is no known curative treatment for this condition presently. Management is supportive. [en.wikipedia.org]

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]

• Developmental Delay

  Name Warsaw Breakage Syndrome Synonyms - Classification developmental, genetic, neoplastic Phenotypes 2-3 toe syndactyly ; Autosomal recessive inheritance ; Clinodactyly ; Cupped ear ; Cutis marmorata ; Epicanthus ; Generalized hypotonia ; Global developmental [mousephenotype.org]

  Remark Clinically affected; birth weight 5 lbs 6 oz; microcephaly and poor growth noted in 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 [catalog.coriell.org]

  Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.Noonan syndrome can cause a variety of other signs and symptoms. [icdlist.com]

  At the age of 5 years, she was admitted for evaluation of developmental delay. Metabolic screening including thyroid status was normal. [jmg.bmj.com]

  先天性代謝疾患 hsa00280 Valine, leucine and isoleucine degradation HSD17B10 [HSA: 3028 ] [KO: K08683 ] H00926 Growth retardation, developmental delay, coarse facies, and early death 本疾患の特徴は、成長遅滞、小頭症、重症の精神運動遅滞、脳機能障害、特異的な顔貌である。30ヶ月以内に死に至る原因は、感染または不明である。 [kegg.jp]

• Falling

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

  Thus, if a child's head circumference at birth is on the 8th percentile, it might drop to the 1st percentile by age 1, and continue to fall after that. [forgottendiseases.org]

  They have early growth retardation, height falling below the 10th centile in all. The growth retardation is proportionate and weight corresponds to height. [adc.bmj.com]

• Single Transverse Palmar Crease

  transverse palmar crease Abnormality of the cardiovascular system ... ... [familydiagnosis.com]

  transverse palmar crease ; Sloping forehead ; Small face ; Tetralogy of Fallot ; Ventricular septal defect ; Wide mouth Associated Genes DDX11 (Withdrawn symbols: CHL1, CHLR1, ChlR1, KRG2, WABS ) Mouse Orthologs Ddx11 (Withdrawn symbols: 4732462I11Rik [mousephenotype.org]

• Underweight

  Most patients are of short stature and underweight (5, 6). A mild to moderate mental retardation, impaired sexual maturation in girls and immunodeficiency are also frequently observed (7). [czytelniamedyczna.pl]

• Fear

  For other patients and families, there is anxiety and fear about the transition process. For yout... [medworm.com]

  23rd Apr 2017 6:00 AM | Updated: 5:08 PM WHEN Vanessa Scott had her 20-week scan with her baby girl Chloe, she feared her daughter would not make it through the pregnancy. [qt.com.au]

• Small Face

  Symptoms of Warsaw breakage syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Epicanthus High palate Microcephaly Optic nerve coloboma Sloping forehead Small face Wide mouth Abnormality of limbs 2-3 [familydiagnosis.com]

  […] hypotonia ; Global developmental delay ; Hearing impairment ; High palate ; Hypoplasia of the cochlea ; Intellectual disability ; Intrauterine growth retardation ; Microcephaly ; Optic nerve coloboma ; Single transverse palmar crease ; Sloping forehead ; Small [mousephenotype.org]

• Amnesia

  […] syndrome Tn Syndrome Tollner Horst Manzke Syndrome Tolosa-Hunt syndrome + Tonoki Syndrome tooth and nail syndrome Townes-Brocks syndrome Townes-Brocks-Branchiootorenal-Like Syndrome toxic encephalopathy + Tranebjaerg Svejgaard syndrome transient global amnesia [rgd.mcw.edu]

Treatment [ edit ] There is no known curative treatment for this condition presently. Management is supportive. [en.wikipedia.org]

Furthermore, ChlR1 is recruited to chromatin following hydroxyurea treatment, supporting a role in the stabilisation of forks during replication stress. [etheses.bham.ac.uk]

The prognosis is poor due to the high frequency of malignancies. History and etymology The condition was first described in the Dutch city of Nijmegen. [radiopaedia.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]

Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. [genecards.org]

IC is frequently misdiagnosed due to complex presentation, and it is also complicated to treat, as the etiology remains unknown and treatment is limited to symptom management. [tecbridgepa.org]

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

Epidemiological data evidence that the NBN gene can be considered a susceptibility factor for cancer development, as demonstrated by the fact that almost 40% of NBS patients have developed a malignancy before the age of 21. [eurekaselect.com]

EPIDEMIOLOGY NBS is a rare disorder. The exact incidence is unknown. Most reported NBS patients have an ethnic origin from Eastern Europe, notably Poland, the Czech Republic, and Ukraine [ 4,5 ]. [uptodate.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Chromosomal instability syndromes are autosomal recessive disorders characterized by defects in DNA repair mechanisms or genetic [mayomedicallaboratories.com]

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]

H00001663-B01P Slide 7: Warsaw breakage deficient in DDX11/ChlR1 Cellular phenotype is caused by DDX11 deficiency DDX11/ChlR1 : DDX11/ChlR1 Chl1 in yeast: DEAH family of DNA helicases Required for sister chromatid cohesion Role in replication fork stability Prevents [authorstream.com]

Required for maintaining the chromosome segregation and is essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M phase of the cell cycle. Binds to both single- and double-stranded DNA. [abcam.cn]

Chem. (1997) [ Pubmed ] Prevention of neuronal cell death by neural adhesion molecules L1 and CHL1. Chen, S., Mantei, N., Dong, L., Schachner, M. J. [wikigenes.org]

TSL:3 DDX11-228 ENST00000545115.5 545 76aa ENSP00000443750 - H0YGL4 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. [ensembl.org]