Fanconi anemia

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Other Names:

Fanconi pancytopenia; Fanconi's anemia

Categories:

Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Fanconi anemia (FA) affects the way genetic information (DNA) is copied and repaired. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. People with FA have a decreased number of red blood cells, white blood cells, and platelets leading to anemia, frequent infections, and excessive bleeding. In addition, people with FA may have limb, kidney, eye, skin, and genitourinary tract abnormalities. FA occurs due to variations in one of at least 22 genes. It is usually inherited in an autosomal recessive pattern, but it may also be inherited in an autosomal dominant or X-linked recessive pattern. FA can be diagnosed based on the symptoms, clinical exam, laboratory testing. The diagnosis may be confirmed by genetic testing. Treatment is focused on managing the symptoms. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the blood problems associated with this condition.^[1]^[2]^[3]^[4]^[5]

Last updated: 9/1/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with Fanconi anemia (FA). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of Fanconi anemia may include:^[1]^[2]^[4]

Shorter than average height
Abnormal patches of skin color
Abnormalities of the bones of the upper and lower limbs
Small head size (microcephaly)
Eye abnormalities
Genitourinary tract malformation
Hearing loss
Structural heart defects
Hormone abnormalities

FA causes bone marrow failure that gets worse over time. This leads to low levels of red and white blood cells and platelets. Symptoms of bone marrow failure include anemia, infections, and excessive bleeding. As adults, people with FA have an increased risk of developing solid tumors and other specific types of cancer, especially myelodysplastic syndrome and acute myelogenous leukemia.

Last updated: 9/1/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 113 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome stability		0003220
Aplasia/Hypoplasia of the radius		0006501
Hypopigmented skin patches	Patchy loss of skin color	0001053
Irregular hyperpigmentation		0007400
Leukopenia	Decreased blood leukocyte number Low white blood cell count [ more ]	0001882
Pyridoxine-responsive sideroblastic anemia		0005522
Short stature	Decreased body height Small stature [ more ]	0004322
Thrombocytopenia	Low platelet count	0001873
30%-79% of people have these symptoms
Almond-shaped palpebral fissure	Almond shaped eyes Almond-shaped opening between the eyelids [ more ]	0007874
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Scoliosis		0002650
Short palpebral fissure	Short opening between the eyelids	0012745
5%-29% of people have these symptoms
Abnormal aortic morphology		0001679
Abnormal aortic valve morphology		0001646
Abnormal carotid artery morphology		0005344
Abnormal localization of kidney	Abnormal localisation of kidneys	0100542
Abnormality of femur morphology	Abnormality of the thighbone	0002823
Abnormality of the hypothalamus-pituitary axis		0000864
Abnormality of the liver	Abnormal liver Liver abnormality [ more ]	0001392
Abnormality of the preputium		0100587
Absent testis	Absent testes	0010469
Aganglionic megacolon	Enlarged colon lacking nerve cells	0002251
Anal atresia	Absent anus	0002023
Aplasia/Hypoplasia of fingers	Absent/small fingers Absent/underdeveloped fingers [ more ]	0006265
Aplasia/Hypoplasia of the iris	Absent/small iris Absent/underdeveloped iris [ more ]	0008053
Aplasia/Hypoplasia of the uvula		0010293
Arteriovenous malformation		0100026
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Azoospermia	Absent sperm in semen	0000027
Bicornuate uterus	Heart shaped uterus Heart-shaped uterus [ more ]	0000813
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Cleft palate	Cleft roof of mouth	0000175
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Clubbing of toes		0100760
Cranial nerve paralysis		0006824
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased fertility in males		0012041
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Duodenal stenosis		0100867
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
External ear malformation		0008572
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Finger syndactyly		0006101
Frontal bossing		0002007
Hearing impairment	Deafness Hearing defect [ more ]	0000365
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hydroureter		0000072
Hyperreflexia	Increased reflexes	0001347
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Hypogonadism	Decreased activity of gonads	0000135
Hypoplasia of the ulna	Underdeveloped inner large forearm bone	0003022
Hypospadias		0000047
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Meckel diverticulum		0002245
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microphthalmia	Abnormally small eyeball	0000568
Multiple cafe-au-lait spots		0007565
Myelodysplasia		0002863
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Oligohydramnios	Low levels of amniotic fluid	0001562
Patent ductus arteriosus		0001643
Pes planus	Flat feet Flat foot [ more ]	0001763
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Ptosis	Drooping upper eyelid	0000508
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Reduced bone mineral density	Low solidness and mass of the bones	0004349
Renal hypoplasia/aplasia	Absent/small kidney Absent/underdeveloped kidney [ more ]	0008678
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Sloping forehead	Inclined forehead Receding forehead [ more ]	0000340
Spina bifida		0002414
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Tetralogy of Fallot		0001636
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Tracheoesophageal fistula		0002575
Triphalangeal thumb	Finger-like thumb	0001199
Umbilical hernia		0001537
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventriculomegaly		0002119
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Weight loss		0001824
1%-4% of people have these symptoms
Male infertility		0003251
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormality of cardiovascular system morphology		0030680
Abnormality of skin pigmentation	Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly [ more ]	0001000
Absent radius	Missing outer large bone of forearm	0003974
Absent thumb	Absent thumbs	0009777
Anemia	Low number of red blood cells or hemoglobin	0001903
Anemic pallor		0001017
Autosomal recessive inheritance		0000007
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Cafe-au-lait spot		0000957
Chromosomal breakage induced by crosslinking agents		0003221
Complete duplication of thumb phalanx	Complete duplication of thumb bones	0009943
Deficient excision of UV-induced pyrimidine dimers in DNA		0003213
Duplicated collecting system		0000081
Ectopic kidney	Abnormal kidney location Displaced kidney [ more ]	0000086
Horseshoe kidney	Horseshoe kidneys	0000085
Hypergonadotropic hypogonadism		0000815
Leukemia		0001909
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Pancytopenia	Low blood cell count	0001876
Prolonged G2 phase of cell cycle		0003214
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Reticulocytopenia		0001896
Short thumb	Short thumbs Small thumbs [ more ]	0009778
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518

Showing of 113 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Cause Cause

Most cases of Fanconi anemia occur when the FANCA, FANCC, or FANCG gene are not working correctly. In addition, there are at least nineteen other genes associated with Fanconi anemia. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes not at all.^[1]^[2]

Last updated: 9/1/2020

Diagnosis Diagnosis

Fanconi anemia is diagnosed based on the symptoms, clinical exam, and laboratory testing to look for signs of bone marrow failure, which may include low levels of red blood cells, white blood cells, and platelets. In addition, genetic testing can be used to confirm the diagnosis.^[1]^[4]

Last updated: 9/1/2020

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Treatment of Fanconi anemia is focused on managing the symptoms. Some people with FA benefit from a hematopoietic stem cell transplant, which is considered curative for the symptoms of bone marrow failure. Other treatments include medications to help manage kidney and hormone problems, as well as increased surveillance for cancer.^[1]^[2]^[5]

Specialists who may be involved in the care of someone with Fanconi anemia include:

Hematologist
Oncologist
Endocrinologist
Immunologist
Nephrologist
Orthopedist
Cardiologist
Ophthalmologist
Medical geneticist

Last updated: 9/1/2020

Statistics Statistics

It has been estimated that one in 100,000 to one in 250,000 people is born with Fanconi anemia. Fanconi anemia may be more common in certain ethnic groups.^[1]^[2]

Last updated: 9/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
FA clinical manifestations overlap with many malformation syndromes (Dubowitz, Seckel, Holt-Oram, Baller-Gerold, thrombocytopenia-absent radius, Nijmegen breakage syndromes, VACTERL association, dyskeratosis congenita; see these terms) and diagnosis of FA is often delayed until a patient develops BMF or malignancies. FA should be considered in the differential diagnosis of all young patients with BMF of unknown etiology. Other cancer predisposition syndromes (Bloom, Rothmund-Thomson or Werner syndromes; see these terms) or syndromes with pancytopenia (Diamond-Blackfan anemia, immune pancytopenia, Pearson or Shwachman-Diamond syndromes; see these terms) should be considered. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

FA clinical manifestations overlap with many malformation syndromes (Dubowitz, Seckel, Holt-Oram, Baller-Gerold, thrombocytopenia-absent radius, Nijmegen breakage syndromes, VACTERL association, dyskeratosis congenita; see these terms) and diagnosis of FA is often delayed until a patient develops BMF or malignancies. FA should be considered in the differential diagnosis of all young patients with BMF of unknown etiology. Other cancer predisposition syndromes (Bloom, Rothmund-Thomson or Werner syndromes; see these terms) or syndromes with pancytopenia (Diamond-Blackfan anemia, immune pancytopenia, Pearson or Shwachman-Diamond syndromes; see these terms) should be considered.

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Fanconi anemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Fanconi anemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Fanconi anemia:
The Pediatric Myelodysplastic Syndrome (MDS) and Bone Marrow Failure (BMF) Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 - 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: enerca@enerca.org
Website: http://www.enerca.org
Fanconi Anemia Research Fund, Inc (FARF)
1801 Willamette Street Suite 200
Eugene, OR 97401
Toll-free: 800-828-4891
Telephone: 541-687-4658
Fax: 541-687-0548
E-mail: info@fanconi.org
Website: http://www.fanconi.org
Jewish Genetic Disease Consortium (JGDC)
450 West End Ave., 6A
New York, NY 10024
Toll-free: 866-370-GENE (4363)
Telephone: 855-642-6900
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Fanconi anemia. This website is maintained by the National Library of Medicine.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi anemia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Tolar J, Adair JE, Antoniou M, Bartholomae CC, Becker PS, Blazar BR, Bueren J, Carroll T, Cavazzana-Calvo M, Clapp DW, Dalgleish R, Galy A, Gaspar HB, Hanenberg H, Von Kalle C, Kiem HP, Lindeman D, Naldini L, Navarro S, Renella R, Rio P, Sevilla J, Schmidt M, Verhoeyen E, Wagner JE, Williams DA, Thrasher AJ. Stem cell gene therapy for fanconi anemia: report from the 1st international Fanconi anemia gene therapy working group meeting. Mol Ther. 2011 Jul;19(7):1193-8.

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News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

Mehta PA, Tolar J. Fanconi anemia. GeneReviews®. Seattle (WA): University of Washington, Seattle. Updated Mar, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1401.
Bhandari J, Thada PK, Puckett Y. Fanconi Anemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Updated: June 21, 2020; https://www.ncbi.nlm.nih.gov/books/NBK559133.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, et al. Chromosome instability syndromes. Nat Rev Dis Primers. 2019; 5(1):64. https://pubmed.ncbi.nlm.nih.gov/31537806.
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP. Genotype-phenotype associations in Fanconi anemia: A literature review. Blood Rev. 2019; 37:100589. https://pubmed.ncbi.nlm.nih.gov/31351673.
Ebens CL, MacMillan ML, Wagner JE. Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations. Expert Rev Hematol. 2017; 10(1):81-97. https://pubmed.ncbi.nlm.nih.gov/27929686.