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]

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]

The few patients described so far typically present with severe growth retardation, microcephaly, intellectual disability and deafness. [oxfordmedicine.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]

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; Sloping forehead ; Small face ; Tetralogy of Fallot ; Ventricular septal defect ; Wide mouth Associated Genes DDX11 (Withdrawn symbols: CHL1, CHLR1, ChlR1, KRG2, WABS ) Mouse Orthologs Ddx11 (Withdrawn symbols: 4732462I11Rik [mousephenotype.org]

• Heart Murmur

  The patient was referred to the cardiology department for evaluation of a heart murmur. Patent ductus arteriosus (PDA) was detected and surgically closed at the age of 3 years. [jmg.bmj.com]

• Hepatomegaly

  The physical examination revealed bilateral lymphadenopathy, hepatomegaly, microcephaly, and syndactyly of the toes. [degruyter.com]

• High Arched Palate

  Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. [malacards.org]

  arched palate Microretrognathism Coloboma of the optic disc Strabismus Cup-shaped ears Sensorineural deafness Short neck Jugular hypoplasia Cardiac features Ventricular septal defect Tetralogy of Fallot Sketelal features Clinodactyly of the fifth fingers [en.wikipedia.org]

• Hirsutism

  Two naevi flammei and hirsutism in the lumbar area were present. [jmg.bmj.com]

• Strabismus

  Intellectual disability Dysmorphic features Small and elongated face Narrow bifrontal diameter Prominent cheeks Small nares Flat philtrum Relatively large mouth Bilateral epicanthal folds High arched palate Microretrognathism Coloboma of the optic disc Strabismus [en.wikipedia.org]

  Ocular examination showed no abnormalities apart from strabismus. A very detailed neurological evaluation also showed no pathological signs. Figure 1 (A, B) The patient aged 6 years. [jmg.bmj.com]

• Short Arm

  Genetics [ edit ] This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12 (12p11). This gene encodes an iron - sulfur containing DNA helicase that belongs to the superfamily 2 of helicases. [en.wikipedia.org]

• Cup-Shaped Ears

  […] disability Dysmorphic features Small and elongated face Narrow bifrontal diameter Prominent cheeks Small nares Flat philtrum Relatively large mouth Bilateral epicanthal folds High arched palate Microretrognathism Coloboma of the optic disc Strabismus Cup-shaped [en.wikipedia.org]

• Prominent Cheeks

  Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. [malacards.org]

  Clinical features [ edit ] These include Severe pre- and postnatal growth retardation Microcephaly Intellectual disability Dysmorphic features Small and elongated face Narrow bifrontal diameter Prominent cheeks Small nares Flat philtrum Relatively large [en.wikipedia.org]

• Short Nose

  Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks. [malacards.org]

  Specifically, symptoms include impaired growth from birth leading to short stature and small head size, as well as distinct facial features that include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth, and prominent [diseaseinfosearch.org]

  Contributed Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth and prominent cheeks. [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]

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]

Due to the small number of patients with NBS and NHL, experience related to their treatment is limited [ 13, 14 ]. The treatment outcome is poor, and drug dose reductions are warranted to reduce serious toxic effects in these patients. [degruyter.com]

[…] and prognosis There is no specific treatment for this syndrome. [radiopaedia.org]

Successful treatment of autoimmune and lymphoproliferative complications of patients with intrinsic B-cell immunodeficiencies with Rituximab. Br J Haematol. 2010; 148 (3): 445-8 [pedinfect.com]

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]

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]

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.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. [biossusa.com]