Fanconi anemia complementation group B
- Synonyms
- FANCONI PANCYTOPENIA, TYPE 2
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Parinda A Mehta
- Christen Ebens
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (63 available)
Cytogenetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Abnormality of chromosome stability
Abnormality of chromosome stability
- MedGen UID: 1631925
- Concept ID: C4551705
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Abnormality of chromosome stability
- Abnormality of blood and blood-forming tissues
- Aplastic anemia
Aplastic anemia
- MedGen UID: 8063
- Concept ID: C0002874
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Aplastic anemia
- Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short neck
- Abnormality of limbs
- Absent thumb
Absent thumb
- MedGen UID: 480441
- Concept ID: C3278811
- Finding: Finding
Abnormality of limbs
- Bilateral radial aplasia
Bilateral radial aplasia
- MedGen UID: 336433
- Concept ID: C1848840
- Finding: Finding
Abnormality of limbs
- Absent thumb
- Abnormality of prenatal development or birth
- Single umbilical artery
Single umbilical artery
- MedGen UID: 278026
- Concept ID: C1384670
- Finding: Congenital Abnormality
Abnormality of prenatal development or birth
- Single umbilical artery
- Abnormality of the cardiovascular system
- Coarctation of aorta
Coarctation of aorta
- MedGen UID: 1617
- Concept ID: C0003492
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Coarctation of aorta
- Abnormality of the digestive system
- Duodenal atresia
Duodenal atresia
- MedGen UID: 75602
- Concept ID: C0266174
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Esophageal atresia
Esophageal atresia
- MedGen UID: 4545
- Concept ID: C0014850
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Duodenal atresia
- Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypogonadism
Hypogonadism
- MedGen UID: 5711
- Concept ID: C0020619
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Abnormality of the eye
- Optic disc hypoplasia
Optic disc hypoplasia
- MedGen UID: 224879
- Concept ID: C1298695
- Finding: Finding
Abnormality of the eye
- Optic disc hypoplasia
- Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal agenesis
Renal agenesis
- MedGen UID: 154237
- Concept ID: C0542519
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
- Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
Abnormal vertebral morphology
- MedGen UID: 371742
- Concept ID: C1834129
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
- Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar hypoplasia
- Abnormality of the respiratory system
- Abnormal lung lobation
Abnormal lung lobation
- MedGen UID: 195782
- Concept ID: C0685695
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Tracheoesophageal fistula
Tracheoesophageal fistula
- MedGen UID: 21228
- Concept ID: C0040588
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Abnormal lung lobation
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Low-set ears
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
- FARF, 2008Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management (3rd Ed.), 2008 (See 2020 Update)
- FARF, 2020Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.