Fanconi anemia differential diagnosis: Difference between revisions

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|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
| colspan="7" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Clinical manifestations'''
| colspan="3" rowspan="2" |'''Clinical manifestations'''
! colspan="7" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings
| rowspan="3" |Pathophysiology
| colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold standard'''
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Additional findings
| colspan="1" rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold standard'''
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Additional findings
|-
|-
| colspan="4" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Symptoms'''
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology
|-
|-
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
|Disease
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptom  
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Histopathology
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical exam  
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Blood profile
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptom 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Anamalies
|
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptom 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptom 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical exam 1
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical exam 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical exam 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging 3
|-
|-
|Fanconi Anemia
|Short stature, delicate features, upper limbs absent or hypoplastic thumbs, supernumerary, bifid clinodactyly
|Short stature, delicate features, upper limbs absent or hypoplastic thumbs, supernumerary, bifid clinodactyly
|Fanconi Anemia
infection, petechia, pallor
|infection, petechia, pallor
|
|Skin – Generalized hyperpigmentation; hypopigmented areas; large freckles, café-au-lait spots
|Skin – Generalized hyperpigmentation; hypopigmented areas; large freckles, café-au-lait spots
|
Head – Microcephaly or hydrocephaly; birdlike face, mid-face hypoplasia, Sprengel's deformity of neck,
|Head – Microcephaly or hydrocephaly; birdlike face, mid-face hypoplasia, Sprengel's deformity of neck,  
 
Eyes- Microphthalmia, ptosis, epicanthal folds, strabismus
Eyes- Microphthalmia, ptosis, epicanthal folds, strabismus
|Complete blood count
Peripheral blood smear  
Reticulocyte count
Complete metabolic panel
Prothrombin time/partial 
thromboplastin time (PT/PTT)
Blood type and screen
|Cytopenia,
Bone marrow failure
|
|
|
|Gastrointestinal anomalies – Atresias, imperforate anus, tracheoesophageal fistula, malrotation,
|Anemia
normocellular or hypercellular bone marrow
|Gastrointestinal  Atresias, imperforate
anus, TE fistula, malrotation,


Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis
Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis
|Cardiopulmonary anomalies – Congenital heart disease (patent ductus arteriosus, atrial or ventricular septal defects, coarctation, situs inversus)
|
|
|FA gene sequencing   
|FA gene  
sequencing   
|Incrreased chromosomal breakage in response to mitomycin C or diepoxybutane (quite sensitive but not entirely specific)
|Incrreased chromosomal breakage in response to mitomycin C or diepoxybutane (quite sensitive but not entirely specific)
|-
|-
| style="background: #F5F5F5; padding: 5px;" |recurrent infections due to neutropenia, mucosal hemorrhage or menorrhagia due to thrombocytopenia, or fatigue and cardiopulmonary findings associated with progressive anemia.
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Acquired Aplastic Anemia
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Acquired Aplastic Anemia
| style="background: #F5F5F5; padding: 5px;" |infections including bacterial and fungal in cases of severe neutropenia
| style="background: #F5F5F5; padding: 5px;" |infections mucosal hemorrhage menorrhagia
| style="background: #F5F5F5; padding: 5px;" |Transient pancytopenia and bone marrow hypoplasia may be caused by a number of exposures including medications, chemicals, certain viral infections, and sepsis or other severe bacterial infections.
| style="background: #F5F5F5; padding: 5px;" |especially pallor and petechiae.
| style="background: #F5F5F5; padding: 5px;" |especially pallor and petechiae.
| style="background: #F5F5F5; padding: 5px;" |The liver, spleen, and lymph nodes are typically enlarged in AA, if its enlarged it may suggest alternative diagnosis.
The liver, spleen, and lymph nodes are typically enlarged in AA, if its enlarged it may suggest alternative diagnosis
| style="background: #F5F5F5; padding: 5px;" |
|
| style="background: #F5F5F5; padding: 5px;" |Complete blood count
| style="background: #F5F5F5; padding: 5px;" |Anemia
normocellular or hypercellular bone marrow
| style="background: #F5F5F5; padding: 5px;" |Gastrointestinal  Atresias, imperforate


Peripheral blood smear  
anus, TE fistula, malrotation,


Reticulocyte count
Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis
 
Complete metabolic panel
 
Prothrombin time/partial 
 
thromboplastin time (PT/PTT)
 
Blood type and screen
| style="background: #F5F5F5; padding: 5px;" |Serum chemistries, including electrolytes, liver function tests (including lactate dehydrogenase [LDH]), and renal function tests should be performed, Also serum B12 and Folate should be performed to exclude
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |Bone marrow aspiration and Biopsy= hypocellular bone marrow in the absence of an abnormal infiltrate or marrow fibrosis.
| style="background: #F5F5F5; padding: 5px;" |hypocellular bone
| style="background: #F5F5F5; padding: 5px;" |typically a more rapid onset and progression of cytopenias; and a response to immunosuppressive therapy
marrow  
| style="background: #F5F5F5; padding: 5px;" |rapid onset
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Paroxysmal nocturnal hemoglobinuria (PNH)
| style="background: #F5F5F5; padding: 5px;" |Fatigue   
| style="background: #F5F5F5; padding: 5px;" |Fatigue   


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●Hemoglobinuria  
●Hemoglobinuria  
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Paroxysmal nocturnal hemoglobinuria (PNH)
 
| style="background: #F5F5F5; padding: 5px;" |Abdominal pain  
Abdominal pain  


●Bone marrow suppression
●Bone marrow suppression


●Erectile dysfunction  
●Erectile dysfunction  
| style="background: #F5F5F5; padding: 5px;" |Chest pain  
 
Chest pain  


●Thrombosis  
●Thrombosis  
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●Renal insufficiency  
●Renal insufficiency  
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |Anemia
| style="background: #F5F5F5; padding: 5px;" |Anemia
●Increased reticulocyte count
normocellular or hypercellular bone marrow  
 
●Increased lactate dehydrogenase (LDH) and bilirubin
 
●Decreased haptoglobin
 
●Free serum hemoglobin with pink/red serum
 
'''Bone Marrow''': PNH usually have a normocellular or hypercellular bone marrow with erythroid hyperplasia. Stainable iron is often absent
| style="background: #F5F5F5; padding: 5px;" |hemolytic anemia (indirect hyperbiliribinemia)
 Intravascular hemolysis in PNH can lead to [[ARF]] and [[Chronic renal disease|CRD]].
| style="background: #F5F5F5; padding: 5px;" |●Hypocellular, normocellular or hypercellular bone marrow, often with erythroid hyperplasia; erythroid dysplasia is not uncommon
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |●Hypo/Hyper
/Normo


| style="background: #F5F5F5; padding: 5px;" |●Findings of iron deficiency may be seen in some patients due to excessive iron loss from hemoglobinuria and hemosiderinuria (eg, low iron, low ferritin, increased transferrin, absent bone marrow iron
cellular,
| style="background: #F5F5F5; padding: 5px;" |●Hemoglobinuria with pink/red urine, positive dipstick for heme, and negative sediment for red blood cells
| style="background: #F5F5F5; padding: 5px;" |Flow cytometry
 
●Negative direct antiglobulin (Coombs) test (DAT)
| style="background: #F5F5F5; padding: 5px;" |●Hypocellular, normocellular or hypercellular bone marrow, often with erythroid hyperplasia; erythroid dysplasia is not uncommon
| style="background: #F5F5F5; padding: 5px;" |'''FLAER''': Flow cytometry detect (GPI) anchored proteins, which are reduced or absent on blood cells in PNH.
Acquired mutations in the ''PIGA'' gene result in the dominance of a hematopoietic progenitor cell clone lacking glycosylphosphatidylinositol (GPI) anchors
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
|-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Other inherited bone marrow failure syndromes
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Other inherited bone marrow failure syndromes
(Dyskeratosis congenita and other short telomere syndromes)
(Dyskeratosis congenita and other short telomere syndromes)
| style="background: #F5F5F5; padding: 5px;" |'''Bone marrow failure'''  
| style="background: #F5F5F5; padding: 5px;" |'''Bone marrow failure'''


Classic mucocutaneous and additional dermatologic findings
Classic mucocutaneous and additional dermatologic findings
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•Microcephaly  
•Microcephaly  


| style="background: #F5F5F5; padding: 5px;" |●Pulmonary disease (pulmonary fibrosis)  
Pulmonary disease (pulmonary fibrosis)  


●Endocrine/Growth/Urologic 
●Endocrine/Growth/Urologic 
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●Cancer  
●Cancer  
|
| style="background: #F5F5F5; padding: 5px;" |Reticular dysgenesis
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |Reticular dysgenesis (RD) is a type of severe combined immunodeficiency caused by mutations in the ''AK2 ''gene that may also be associated with bone marrow aplasia,
| style="background: #F5F5F5; padding: 5px;" |Flow cytometry
 
| style="background: #F5F5F5; padding: 5px;" | - chromosomal breakage test.
unlike FA, patients with RD develop bone marrow aplasia in infancy associated with sensorineural hearing loss and severe adaptive immune dysfunction
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |negative chromosomal breakage test.
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Symptom 1
!Diseases
! colspan="1" rowspan="1" |Symptom 2
!Symptom 3
!Physical exam 1
! colspan="1" rowspan="1" |Physical exam 2
!Physical exam 3
!Lab 1
!Lab 2
!Lab 3
!Imaging 1
!Imaging 2
!Imaging 3
!Histopathology
|'''Gold standard'''
!Additional findings
|-
|-
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Drug-induced or infection-associated pancytopenia
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Drug-induced or infection-associated pancytopenia
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|
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| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
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|-
|-
| style="background: #F5F5F5; padding: 5px;" |Like FA, these rare chromosomal instability syndromes are associated with multiple congenital anomalies, often including microcephaly, short stature, and increased risk of malignancy. Also like FA, t.
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Rare syndromes,
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Rare chromosomal breakage syndromes, Nijmegen breakage syndrome (''NBS''), Bloom syndrome (''BLM''), ataxia telangiectasia (''ATM''), LIG4 syndrome (''LIG4''), NHEJ1 deficiency (''NHEJ1''), Seckel syndrome ''(ATR)'','' ''and the cohesinopathies Roberts syndrome (''ESCO2'') and Warsaw breakage syndrome (''DDX11'').
Nijmegen breakage
 
syndrome (''NBS''),  
 
Bloom syndrome  
 
(''BLM''), ataxia  
 
telangiectasia
 
(''ATM''), LIG4  
 
syndrome (''LIG4''),
 
NHEJ1 deficiency  
 
(''NHEJ1''), Seckel syndrome ''(ATR)'',
 
'' ''cohesinopathies  
 
Roberts  
 
syndrome (''ESCO2'')  
 
Warsaw
 
breakage syndrome (''DDX11'').
| style="background: #F5F5F5; padding: 5px;" |microcephaly, short stature increased
malignancy
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|
| style="background: #F5F5F5; padding: 5px;" |no specific findings
| style="background: #F5F5F5; padding: 5px;" |Gastrointestinal  Atresias, imperforate
anus, TE fistula, malrotation,
Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |abnormal chromosomal breakage test
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |No bone
| style="background: #F5F5F5; padding: 5px;" |
marrow
| style="background: #F5F5F5; padding: 5px;" |compared to FA, these conditions show subtle differences in the associated congenital anomalies, the spectrum of associated malignancies, and the specific abnormalities seen within chromosomal breakage testing (eg, increased chromosome 7 and 14 abnormalities in NBS, railroading figures in cohesinopathies).
 
| style="background: #F5F5F5; padding: 5px;" |
failure  
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |these syndromes will often cause an abnormal chromosomal breakage tes
| style="background: #F5F5F5; padding: 5px;" |patients with NBS do not typically exhibit bone marrow failure except in the setting of evolving malignancy.
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |De novo myelodysplastic syndrome (MDS)
| style="background: #F5F5F5; padding: 5px;" |MDS can arise de novo or secondary to another bone marrow disorder;  
| style="background: #F5F5F5; padding: 5px;" |MDS can arise de novo or secondary to another bone marrow disorder;  
| style="background: #DCDCDC; padding: 5px; text-align: center;" |De novo myelodysplastic syndrome (MDS)
| style="background: #F5F5F5; padding: 5px;" |many patients with FA develop secondary MDS in child/young adults.
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |de novo MDS can cause bone marrow failure
| style="background: #F5F5F5; padding: 5px;" |variable cytopenias, multilineage dysplasia, cytogenetic abnormalities, and increased blasts
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|
| style="background: #F5F5F5; padding: 5px;" |bone marrow failure
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |, individuals with MDS in whom FA is being considered should have chromosomal breakage tests performed on skin fibroblasts rather than hematopoietic cells, because bone marrow cytogenetic abnormalities associated with MDS clones may skew chromosomal breakage results performed on lymphocyte
| style="background: #F5F5F5; padding: 5px;" |Positive
chromosomal breakage tests
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |Unlike FA or FA with secondary MDS, de novo MDS is not associated with congenital anomalies, an abnormal chromosome breakage test, or FA mutations
| style="background: #F5F5F5; padding: 5px;" |Negitive
chromosomal breakage tests
|}
|}


Revision as of 15:57, 24 June 2018

Fanconi anemia Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Fanconi Anemia must be differentiated from Aplastic Anemia, Paraoxysomal Nocturnal Hemoglobinuria, and Chromosomal breakage syndrome and Hereditary Bone marrow failure syndrome (Dyskeratosis congenita and other short telomere syndromes).

Differentiating X from other Diseases

  • Fanconi Anemia must be differentiated from other diseases that cause Pancytopenia, Congenital anomalies, and associated with malignancy such as Aplastic Anemia, Rare chromosomal breakage syndrome and inherited bone marrow failure.
  • As Fanconi Anemia resembles with variety of other diseases that causes pancytopenia.
  • Must be differentiated on basis on congenital anomalies and chromosomal breakage test.

Preferred Table

Clinical manifestations Pathophysiology Para-clinical findings Gold standard Additional findings
Lab Findings Imaging Histopathology
Disease Symptom Physical exam Blood profile Anamalies
Fanconi Anemia Short stature, delicate features, upper limbs absent or hypoplastic thumbs, supernumerary, bifid clinodactyly

infection, petechia, pallor

Skin – Generalized hyperpigmentation; hypopigmented areas; large freckles, café-au-lait spots

Head – Microcephaly or hydrocephaly; birdlike face, mid-face hypoplasia, Sprengel's deformity of neck,

Eyes- Microphthalmia, ptosis, epicanthal folds, strabismus

Anemia

normocellular or hypercellular bone marrow

Gastrointestinal  Atresias, imperforate

anus, TE fistula, malrotation,

Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis

FA gene

sequencing

Incrreased chromosomal breakage in response to mitomycin C or diepoxybutane (quite sensitive but not entirely specific)
Acquired Aplastic Anemia infections mucosal hemorrhage menorrhagia especially pallor and petechiae.

The liver, spleen, and lymph nodes are typically enlarged in AA, if its enlarged it may suggest alternative diagnosis

Anemia

normocellular or hypercellular bone marrow

Gastrointestinal  Atresias, imperforate

anus, TE fistula, malrotation,

Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis

hypocellular bone

marrow

rapid onset
Paroxysmal nocturnal hemoglobinuria (PNH) Fatigue

●Dyspnea

●Hemoglobinuria

Abdominal pain

●Bone marrow suppression

●Erectile dysfunction

Chest pain

●Thrombosis

●Renal insufficiency

Anemia

normocellular or hypercellular bone marrow

●Hypo/Hyper

/Normo

cellular,

Flow cytometry
Other inherited bone marrow failure syndromes

(Dyskeratosis congenita and other short telomere syndromes)

Bone marrow failure

Classic mucocutaneous and additional dermatologic findings

•Skin dyspigmentation

•Nail irregularities

•Leukoplakia

•Premature graying/hair loss

•Hyperhidrosis – 15 percent

Ophthalmologic/Epiphora

 (excessive tearing/lacrimal 

duct stenosis)

●Neurologic/Cognitive

•Developmental delay

•Ataxia/cerebellar hypoplasia – approximately

•Microcephaly

Pulmonary disease (pulmonary fibrosis)

●Endocrine/Growth/Urologic 

features

•Short stature

•Intrauterine growth retardation

•Hypogonadism/Undescended

 testes

•Urethral stricture/phimosis 

•Osteoporosis and related complications

Unlike Fanconi anemia, individuals with DC do not appear to have impaired fertility

●Dental manifestations (caries)

●Gastroenterologic/Hepatologic 

manifestations

•Esophageal strictures

•Liver disease (cirrhosis, fibrosis) or gastroenteropathy

●Cancer

Reticular dysgenesis Flow cytometry - chromosomal breakage test.
Drug-induced or infection-associated pancytopenia
Rare syndromes,

Nijmegen breakage

syndrome (NBS),

Bloom syndrome

(BLM), ataxia

telangiectasia

(ATM), LIG4

syndrome (LIG4),

NHEJ1 deficiency

(NHEJ1), Seckel syndrome (ATR),

 cohesinopathies

Roberts

syndrome (ESCO2)

Warsaw

breakage syndrome (DDX11).

microcephaly, short stature increased

malignancy

no specific findings Gastrointestinal  Atresias, imperforate

anus, TE fistula, malrotation,

Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis

abnormal chromosomal breakage test No bone

marrow

failure

De novo myelodysplastic syndrome (MDS) MDS can arise de novo or secondary to another bone marrow disorder; bone marrow failure Positive

chromosomal breakage tests

Negitive

chromosomal breakage tests

References

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