Fanconi anemia

Información en español Title

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 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 anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive, autosomal dominant or X-linked recessive fashion.^[1]^[2] Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the blood problems.^[1]

Genetics Home Reference have information about Fanconi Anemia.

Last updated: 12/13/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of chromosome stability	Very frequent (present in 80%-99% of cases)
Aplasia/Hypoplasia of the radius	Very frequent (present in 80%-99% of cases)
Hypopigmented skin patches	Very frequent (present in 80%-99% of cases)
Irregular hyperpigmentation	Very frequent (present in 80%-99% of cases)
Leukopenia	Very frequent (present in 80%-99% of cases)
Pyridoxine-responsive sideroblastic anemia	Very frequent (present in 80%-99% of cases)
Thrombocytopenia	Very frequent (present in 80%-99% of cases)
Almond-shaped palpebral fissure	Frequent (present in 30%-79% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Microcephaly	Frequent (present in 30%-79% of cases)
Scoliosis	Frequent (present in 30%-79% of cases)
Short palpebral fissure	Frequent (present in 30%-79% of cases)
Abnormal localization of kidney	Occasional (present in 5%-29% of cases)
Abnormality of femur morphology	Occasional (present in 5%-29% of cases)
Abnormality of the aorta	Occasional (present in 5%-29% of cases)
Abnormality of the aortic valve	Occasional (present in 5%-29% of cases)
Abnormality of the carotid arteries	Occasional (present in 5%-29% of cases)
Abnormality of the hypothalamus-pituitary axis	Occasional (present in 5%-29% of cases)
Abnormality of the liver	Occasional (present in 5%-29% of cases)
Abnormality of the preputium	Occasional (present in 5%-29% of cases)
Absent testis	Occasional (present in 5%-29% of cases)
Aganglionic megacolon	Occasional (present in 5%-29% of cases)
Anal atresia	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of fingers	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the iris	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the uvula	Occasional (present in 5%-29% of cases)
Arteriovenous malformation	Occasional (present in 5%-29% of cases)
Astigmatism	Occasional (present in 5%-29% of cases)
Atrial septal defect	Occasional (present in 5%-29% of cases)
Azoospermia	Occasional (present in 5%-29% of cases)
Bicornuate uterus	Occasional (present in 5%-29% of cases)
Cataract	Occasional (present in 5%-29% of cases)
Choanal atresia	Occasional (present in 5%-29% of cases)
Clinodactyly of the 5th finger	Occasional (present in 5%-29% of cases)
Clubbing of toes	Occasional (present in 5%-29% of cases)
Cranial nerve paralysis	Occasional (present in 5%-29% of cases)
Cryptorchidism	Occasional (present in 5%-29% of cases)
Decreased fertility in males	Occasional (present in 5%-29% of cases)
Dolichocephaly	Occasional (present in 5%-29% of cases)
Duodenal stenosis	Occasional (present in 5%-29% of cases)
Epicanthus	Occasional (present in 5%-29% of cases)
External ear malformation	Occasional (present in 5%-29% of cases)
Facial asymmetry	Occasional (present in 5%-29% of cases)
Finger syndactyly	Occasional (present in 5%-29% of cases)
Frontal bossing	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
High palate	Occasional (present in 5%-29% of cases)
Hip dislocation	Occasional (present in 5%-29% of cases)
Hydrocephalus	Occasional (present in 5%-29% of cases)
Hydroureter	Occasional (present in 5%-29% of cases)
Hyperreflexia	Occasional (present in 5%-29% of cases)
Hypertelorism	Occasional (present in 5%-29% of cases)
Hypertrophic cardiomyopathy	Occasional (present in 5%-29% of cases)
Hypogonadism	Occasional (present in 5%-29% of cases)
Hypoplasia of the ulna	Occasional (present in 5%-29% of cases)
Hypospadias	Occasional (present in 5%-29% of cases)
Intrauterine growth retardation	Occasional (present in 5%-29% of cases)
Meckel diverticulum	Occasional (present in 5%-29% of cases)
Micrognathia	Occasional (present in 5%-29% of cases)
Microphthalmia	Occasional (present in 5%-29% of cases)
Multiple cafe-au-lait spots	Occasional (present in 5%-29% of cases)
Myelodysplasia	Occasional (present in 5%-29% of cases)
Nystagmus	Occasional (present in 5%-29% of cases)
Oligohydramnios	Occasional (present in 5%-29% of cases)
Patent ductus arteriosus	Occasional (present in 5%-29% of cases)
Pes planus	Occasional (present in 5%-29% of cases)
Proptosis	Occasional (present in 5%-29% of cases)
Ptosis	Occasional (present in 5%-29% of cases)
Recurrent urinary tract infections	Occasional (present in 5%-29% of cases)
Reduced bone mineral density	Occasional (present in 5%-29% of cases)
Renal hypoplasia/aplasia	Occasional (present in 5%-29% of cases)
Renal insufficiency	Occasional (present in 5%-29% of cases)
Sloping forehead	Occasional (present in 5%-29% of cases)
Spina bifida	Occasional (present in 5%-29% of cases)
Strabismus	Occasional (present in 5%-29% of cases)
Tetralogy of Fallot	Occasional (present in 5%-29% of cases)
Toe syndactyly	Occasional (present in 5%-29% of cases)
Tracheoesophageal fistula	Occasional (present in 5%-29% of cases)
Triphalangeal thumb	Occasional (present in 5%-29% of cases)
Umbilical hernia	Occasional (present in 5%-29% of cases)
Upslanted palpebral fissure	Occasional (present in 5%-29% of cases)
Ventriculomegaly	Occasional (present in 5%-29% of cases)
Visual impairment	Occasional (present in 5%-29% of cases)
Weight loss	Occasional (present in 5%-29% of cases)
Abnormal heart morphology	-
Abnormality of skin pigmentation	-
Absent radius	-
Absent thumb	-
Anemia	-
Anemic pallor	-
Bruising susceptibility	-
Cafe-au-lait spot	-
Chromosomal breakage induced by crosslinking agents	-
Complete duplication of thumb phalanx	-
Deficient excision of UV-induced pyrimidine dimers in DNA	-
Duplicated collecting system	-
Ectopic kidney	-
Horseshoe kidney	-
Hypergonadotropic hypogonadism	-
Leukemia	-
Neutropenia	-
Pancytopenia	-
Prolonged G2 phase of cell cycle	-
Renal agenesis	-
Reticulocytopenia	-
Short thumb	-
Small for gestational age	-

Last updated: 9/1/2017

Diagnosis Diagnosis

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.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Prognosis Prognosis

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

Do you have updated information on this condition? Let us know.

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 studying or have studied 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.

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

Center for Jewish Genetics
30 South Wells St.
Chicago, IL 60606
Telephone: 312-357-4717
Fax: 312-855-3295
E-mail: jewishgeneticsctr@juf.org
Website: https://www.jewishgenetics.org/
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)
315 West 39th Street, Suite 701
New York, NY 10018
Toll-free: 866-370-GENE (4363)
Telephone: 212-362-4675
Fax: 212-873-7892
E-mail: info@jewishgeneticdiseases.org
Website: http://www.JewishGeneticDiseases.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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 Genetics Home Reference.

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

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

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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NCATS Co-Sponsored Conferences

27th Annual Fanconi Anemia Research Fund Scientific Symposium Friday, August 28, 2015 - Sunday, August 30, 2015
Location: Toronto, Canada
Description: This Symposium brings together an international group of leading scientists and physicians including many new and young investigators, patients and their families to discuss basic science, clinical and translational aspects of FA. Approximately 200 researchers and clinicians are expected to participate in the three-day conference comprised of invited keynote and/or special session presenters, together with approximately 45 oral abstract presentations in a single-track format, interspersed with one or two panel presentations designed for greater interactivity.

Contact: Yingying Li-Smerin,(301) 435-0277,lismerin@nhlbi.nih.gov

Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Workshop on Research Directions in Fanconi Anemia Thursday, September 18, 1997 - Saturday, September 20, 1997
Location: Columbia, MD
Contact:

Co-funding Institute(s): National Heart, Lung, and Blood Institute

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

Alter BP. & Kupfer G. Fanconi anemia. GeneReviews. November 2011; http://www.ncbi.nlm.nih.gov/books/NBK1401/. Accessed 1/4/2012.
Fanconi's anemia. MedlinePlus. April 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000334.htm. Accessed 1/4/2012.
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.
Cutler C. The approach to hematopoietic cell transplantation survivorship. In: Basow. UpToDate. Waltham, MA: UpToDate; 2012;