Minor anomalies can also be present such as low height and weight, microcephaly and/or microphthalmia. Skin pigmentation abnormalities and hypoplastic thenar eminence are frequent. [orpha.net]

For example, one report found that patients with FANCA null mutations present with a more severe phenotype than other types of FANCA mutations (Faivre at al., 2000). [ashpublications.org]

(The clinical presentation of Fanconi anemia is discussed under Physical Examination.) [emedicine.medscape.com]

In that case a western blot should reveal whether both FANCD2 isoforms are present at normal levels.(1)If both FANCD2 bands are absent or very weak, FANCD2 is sequenced. [hindawi.com]

FS may also be present along with other rare genetic diseases, such as: cystinosis Wilson’s disease Dent disease Lowe syndrome The symptoms may be attributed to more familiar diseases, including type 1 diabetes. [healthline.com]

• Thrombosis

  Cerebral venous thrombosis in paroxysmal nocturnal hemoglobinuria: a series of 15 cases and review of the literature. Medicine, 2015 Jan; 94(1): e362. [marih.fr]

• Heart Disease

  disease, and CNS anomalies (arterial malformation, stenosis of the internal carotid, and small pituitary gland). [emedicine.medscape.com]

• Hyperpigmentation

  Classic features include abnormal thumbs, absent radii, short stature, skin hyperpigmentation, including café au lait spots, abnormal facial features (triangular face, microcephaly), abnormal kidneys, and decreased fertility. [en.wikipedia.org]

(See Workup.) The advent of molecular diagnostics has further improved the specificity of Fanconi anemia diagnosis. Fanconi anemia accounts for approximately 25% of the cases of aplastic anemia seen at large referral centers. [emedicine.medscape.com]

This is considered a treatment for the underlying disease, rather than a treatment for FS. Cystinosis treatment It’s important to start treatment as soon as possible for cystinosis. [healthline.com]

Management and treatment Supportive care includes transfusions of packed red blood cells (RBC) or leucodepleted platelets. The only curative treatment for hematologic manifestations is hematopoietic stem cell transplantation (HSCT). [orpha.net]

Treatment of Fanconi anemia Doctors have numerous approaches to treating this anemia. [stanfordchildrens.org]

Treatments include transfusion of blood products and bone marrow transplants. As most cases are inherited, genetic counseling is important. History and etymology First described by a Swiss pediatrician, Guido Fanconi (1892-1979), in 1927 8,9. [radiopaedia.org]

At 24 weeks, if there is no response to this dose the patient will be taken off study drug and classified as a treatment failure, and will be monitored at weeks 38 and week 52). [clinicaltrials.gov]

Prognosis BMF and malignancies lead to a poor prognosis with a reduced life expectancy, which has been improved by HSCT and androgen treatment. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] type e type f type g type i type j type l type m type n Although non-specific, commonly described features include: radial ray anomalies: including absent thumb triphalangeal thumb congenital hip dysplasia scoliosis vertebral anomalies Treatment and prognosis [radiopaedia.org]

[…] hemoglobin and I antigen expression on erythrocytes (evidence of "stressed" erythropoiesis) Stimulated peripheral lymphocyte cultures: characteristic pattern of combined G2 phase prolongation and arrested G2 phase, detectable by flow cytometry Treatment and prognosis [pathologyoutlines.com]

Blood Reviews: “Pathophysiology of inherited bone marrow failure syndromes.” [1] Complications Possible complications of Fanconi anemia include hemorrhages, infections, leukemia, myelodysplastic syndrome, and liver tumors and other cancers. [2, 3] (See Prognosis [emedicine.medscape.com]

Observation of monosomy 7 within the marrow is well correlated with an increased risk of developing AML and with a very poor prognosis, death generally ensuing within 2 years (unless prompt allogeneic hematopoietic progenitor cell transplant is an option [en.wikipedia.org]

FA should be considered in the differential diagnosis of all young patients with BMF of unknown etiology. [orpha.net]

(See Etiology.) Furthermore, in cultured Fanconi anemia cells, cell cycle arrest in gap 2/mitosis (G2/M) occurs at lower concentrations of clastogens than in normal cells. [emedicine.medscape.com]

Summary Epidemiology Recent determination of the carrier frequency gave an estimate of more than 1/200, with an expected prevalence at birth of at least 1/160,000. [orpha.net]

Additionally, readers interested in an in depth review of Fanconi anemia and other IBMFSs are referred to an article by Shimamura and Alter in the journal Blood Reviews: “Pathophysiology of inherited bone marrow failure syndromes.” [1] Complications Possible [emedicine.medscape.com]

The carrier frequency for this mutation in the Ashkenazi population is relatively high (1 in 87), which has led to the recommendation of carrier detection to prevent disease [59]. [hindawi.com]