Nijmegen Breakage Syndrome-like Disorder

Description

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

Clinical Features

Phenotypes and symptoms related to Nijmegen Breakage Syndrome-like Disorder

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity
  • Immunodeficiency
  • Hypermetropia
  • Hypopigmentation of the skin
  • Telangiectasia
  • Chromosomal breakage induced by ionizing radiation

Incidence and onset information

— Based on the latest data available there are 1 published cases of NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER in Europe.
No data available about the known clinical features onset.

Alternative names

Nijmegen Breakage Syndrome-like Disorder Is also known as microcephaly and chromosomal instability without immunodeficiency, nbsld, microcephaly and spontaneous chromosome instability without immunodeficiency, nbs-like disorder, rad50 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nijmegen Breakage Syndrome-like Disorder Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
50 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
50 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
50 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %

You can get up to 104 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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