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Nijmegen breakage syndrome-like disorder(NBSLD)

MedGen UID:
442700
•Concept ID:
C2751318
•
Disease or Syndrome
Synonyms: MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY; NBS-LIKE DISORDER; NBSLD; RAD50 DEFICIENCY
SNOMED CT: Nijmegen breakage syndrome-like disorder (766753005); NBS-like (Nijmegen breakage syndrome-like) disorder (766753005); Microcephaly and chromosomal instability without immunodeficiency (766753005); RAD50 deficiency (766753005)
 
Gene (location): RAD50 (5q31.1)
 
Monarch Initiative: MONDO:0013118
OMIM®: 613078
Orphanet: ORPHA240760

Definition

Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration (summary by Ragamin et al., 2020). [from OMIM]

Clinical features

From HPO
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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Cerebellar ataxia
MedGen UID:
849
•Concept ID:
C0007758
•
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
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Decreased circulating antibody concentration
MedGen UID:
892481
•Concept ID:
C4048270
•
Finding
An abnormally decreased level of immunoglobulin in blood.
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Bird-like facies
MedGen UID:
325243
•Concept ID:
C1837758
•
Finding
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Hypermetropia
MedGen UID:
43780
•Concept ID:
C0020490
•
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
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Chromosomal breakage induced by ionizing radiation
MedGen UID:
866851
•Concept ID:
C4021206
•
Pathologic Function
Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNijmegen breakage syndrome-like disorder
Follow this link to review classifications for Nijmegen breakage syndrome-like disorder in Orphanet.

Recent clinical studies

Diagnosis

Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
Takagi M, Hoshino A, Bousset K, Röddecke J, Martin HL, Folcut I, Tomomasa D, Yang X, Kobayashi J, Sakata N, Yoshida K, Miyano S, Ogawa S, Kojima S, Morio T, Dörk T, Kanegane H
J Clin Immunol 2023 Nov;43(8):2136-2145. Epub 2023 Oct 5 doi: 10.1007/s10875-023-01591-8. PMID: 37794136
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T
Am J Hum Genet 2009 May;84(5):605-16. Epub 2009 Apr 30 doi: 10.1016/j.ajhg.2009.04.010. PMID: 19409520Free PMC Article

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