National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fanconi anemia

Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in fatigue and anemia; and a decreased amount of platelets may lead to excess bleeding.[1][2] Fanconi anemia can be caused by mutations in various genes. It can be inherited in an autosomal recessive, autosomal dominant or X-linked recessive fashion.[1] Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the blood problems associated with this condition.[1][2] 
Last updated: 12/13/2016

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.

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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 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.
Allogeneic hematopoietic stem cell transplantation (HCT), a type of bone marrow transplant, has long been the primary treatment method for correcting the blood defects associated with Fanconi anemia.[3] In general, it has been estimated that five-year survivors of HCT may have a normal to near normal life expectancy,[4] however Fanconi anemia is a risk factor that negatively impacts survival rates. One study estimated a 58 percent 30-years survival rate for one-year survivors of HCT with Fanconi anemia.[3]
Last updated: 3/11/2013

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

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.

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

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

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

  • Genetics Home Reference (GHR) contains information on Fanconi anemia. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What is the scientific name for Fanconi Anemia group c? Is it autosomal or sex chromosome linked? Is it more common among men or women? Is there currently any research being conducted to understand more about this disease? See answer

  • I had Fanconi anemia and underwent chemothearpy and a bone marrow transplant as a young child. I am now a healthy young adult. Is there any data regarding life expectancy following a bone marrow transplant? I am aware of the increased risk for certain cancers. Also can Fanconi anemia and its treatment affect growth? If so, what treatment is available. Lastly, do you know why my doctor adivised me not to weight lift?  See answer


  1. Alter BP. & Kupfer G. Fanconi anemia. GeneReviews. November 2011; http://www.ncbi.nlm.nih.gov/books/NBK1401/.
  2. Gersten T. Fanconi's anemia. MedlinePlus. March 16, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000334.htm.
  3. Sanders JE et al.,. Late effects among pediatric patients followed for nearly 4 decades after transplantation for severe aplastic anemia. Blood. 2011;118(5):1421; http://www.ncbi.nlm.nih.gov/pubmed/?term=21653322. Accessed 3/11/2013.
  4. Cutler C. The approach to hematopoietic cell transplantation survivorship. In: Basow. UpToDate. Waltham, MA: UpToDate; 2012;