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 | 90% |
| Anemia | 90% |
| Aplasia/Hypoplasia of the radius | 90% |
| Bone marrow hypocellularity | 90% |
| Hypopigmented skin patches | 90% |
| Irregular hyperpigmentation | 90% |
| Leukopenia | 90% |
| Short stature | 90% |
| Thrombocytopenia | 90% |
| Blepharophimosis | 50% |
| Cognitive impairment | 50% |
| Microcephaly | 50% |
| Scoliosis | 50% |
| Abnormal localization of kidney | 7.5% |
| Abnormality of female internal genitalia | 7.5% |
| Abnormality of the aorta | 7.5% |
| Abnormality of the aortic valve | 7.5% |
| Abnormality of the carotid arteries | 7.5% |
| Abnormality of the femur | 7.5% |
| Abnormality of the hip bone | 7.5% |
| Abnormality of the hypothalamus-pituitary axis | 7.5% |
| Abnormality of the liver | 7.5% |
| Abnormality of the preputium | 7.5% |
| Abnormality of the ulna | 7.5% |
| Aganglionic megacolon | 7.5% |
| Aplasia/Hypoplasia of the iris | 7.5% |
| Aplasia/Hypoplasia of the uvula | 7.5% |
| Arteriovenous malformation | 7.5% |
| Astigmatism | 7.5% |
| Atria septal defect | 7.5% |
| Cafe-au-lait spot | 7.5% |
| Cataract | 7.5% |
| Choanal atresia | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Clubbing of toes | 7.5% |
| Cranial nerve paralysis | 7.5% |
| Cryptorchidism | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Dolichocephaly | 7.5% |
| Duodenal stenosis | 7.5% |
| Epicanthus | 7.5% |
| External ear malformation | 7.5% |
| Facial asymmetry | 7.5% |
| Finger syndactyly | 7.5% |
| Frontal bossing | 7.5% |
| Functional abnormality of male internal genitalia | 7.5% |
| Hearing impairment | 7.5% |
| Hydrocephalus | 7.5% |
| Hyperreflexia | 7.5% |
| Hypertelorism | 7.5% |
| Hypertrophic cardiomyopathy | 7.5% |
| Intrauterine growth retardation | 7.5% |
| Meckel diverticulum | 7.5% |
| Myelodysplasia | 7.5% |
| Nystagmus | 7.5% |
| Oligohydramnios | 7.5% |
| Patent ductus arteriosus | 7.5% |
| Pes planus | 7.5% |
| Proptosis | 7.5% |
| Ptosis | 7.5% |
| Recurrent urinary tract infections | 7.5% |
| Reduced bone mineral density | 7.5% |
| Renal hypoplasia/aplasia | 7.5% |
| Renal insufficiency | 7.5% |
| Sloping forehead | 7.5% |
| Spina bifida | 7.5% |
| Strabismus | 7.5% |
| Tetralogy of Fallot | 7.5% |
| Toe syndactyly | 7.5% |
| Tracheoesophageal fistula | 7.5% |
| Triphalangeal thumb | 7.5% |
| Umbilical hernia | 7.5% |
| Upslanted palpebral fissure | 7.5% |
| Urogenital fistula | 7.5% |
| Ventriculomegaly | 7.5% |
| Visual impairment | 7.5% |
| Weight loss | 7.5% |
| Abnormality of cardiovascular system morphology | - |
| Abnormality of skin pigmentation | - |
| Absent radius | - |
| Absent thumb | - |
| Anemic pallor | - |
| Bruising susceptibility | - |
| 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 | - |
| Intellectual disability | - |
| Leukemia | - |
| Microphthalmia | - |
| Neutropenia | - |
| Pancytopenia | - |
| Prolonged G2 phase of cell cycle | - |
| Renal agenesis | - |
| Reticulocytopenia | - |
| Short thumb | - |
| Small for gestational age | - |
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.
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
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
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
