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| == Overview == | | == Overview == |
| The majority of patients with fanconi anemia prevent with congenital anomalies. | | The majority of patients with fanconi anemia present with congenital anomalies. Sometimes, FA may be suspected at birth by one or more of these physical traits: |
| | * Skin discolorations |
| | * Hand, arm and other skeletal anomalies |
| | * Kidney problems |
| | * Small head or eyes |
| | * Low birth weight |
| | * Gastrointestinal problems (bowel) |
| | * Small reproductive organs in males |
| | * Heart defects |
| | Since these physical characteristics can be indicative of other conditions, and since some patients may have no obvious physical traits of FA, the condition may not be diagnosed at birth. |
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| | They may exhibit symptoms such as: |
| | * Unexplained fatigue |
| | * Recurrent colds or viral infections |
| | * Recurrent nosebleeds |
| | * Easy bruising |
| | * Blood in the stool or urine |
| | * Shortness of breath |
| | * Poor growth / short stature |
| | In rare cases, symptoms do not occur until early adulthood. |
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| The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
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| == History and Symptoms ==
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| * '''CLINICAL FEATURES'''
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| * '''Congenital anomalies''' — Congenital malformations are the most often presenting features of FA.<ref name="pmid20417588">{{cite journal| author=Shimamura A, Alter BP| title=Pathophysiology and management of inherited bone marrow failure syndromes. | journal=Blood Rev | year= 2010 | volume= 24 | issue= 3 | pages= 101-22 | pmid=20417588 | doi=10.1016/j.blre.2010.03.002 | pmc=3733544 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20417588 }}</ref> Malformations are reported in 60 to 75 percent of patients, but many in the field believe this represents an underestimate, as many patients with FA do not manifest classical physical findings <ref name="pmid29757215">{{cite journal| author=Fu X, Liang C, Li F, Wang L, Wu X, Lu A et al.| title=The Rules and Functions of Nucleocytoplasmic Shuttling Proteins. | journal=Int J Mol Sci | year= 2018 | volume= 19 | issue= 5 | pages= | pmid=29757215 | doi=10.3390/ijms19051445 | pmc=5983729 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29757215 }}</ref>
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| * Young adults with more subtle clinical findings increasingly may be identified from genomic sequencing. Despite the high frequency of malformations, only a small percentage of patients with FA (<5 percent) are diagnosed within the first year of life based on classic congenital anomalies. Thus, while the presence of these findings provides an important clue to the diagnosis, their absence does not eliminate the possibility of FA. In a series of 370 patients enrolled in the International FA Registry and a review of over 2000 patients reported in the literature from 1927 to 2009, the most common developmental abnormalities included the following
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| * Skin findings (approximately 40 to 60 percent), including hyper- or hypopigmentation or café-au-lait spots
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| * Short stature (40 to 60 percent)
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| * Thumb or other radial ray abnormalities (50 percent)
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| * Thumbs absent or hypoplastic, bifid/duplicated, rudimentary, triphalangeal (35 percent)
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| * Radii absent or hypoplastic (7 percent)
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| * Hands/other such as flat thenar eminence, clinodactyly, polydactyly, missing first metacarpal, dysplastic ulnae (6 percent)
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| * Axial skeletal abnormalities (25 percent), especially microcephaly, triangular facies, short/webbed neck, vertebral anomalies
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| * Eye malformations (20 to 40 percent), including strabismus and hypo/hypertelorism
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| * Renal and urinary tract malformations (approximately 20 to 30 percent) including horseshoe, ectopic, dysplastic, or absent kidney; hydronephrosis; hydroureter
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| * Gonadal/Genital malformations • In males, hypospadias, micropenis, undescended/absent testes, infertility (25 percent) • In females, uterus malformation, small ovaries, hypogenitalia (<5 percent)
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| * Ear abnormalities (10 to 20 percent) with conductive hearing loss due to middle ear anomalies or atretic ear canal
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| * Congenital heart disease (approximately 5 percent) such as patent ductus arteriosus, ventricular septal defect, aortic coarctation, truncus arteriosus
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| * Gastrointestinal anomalies (approximately 5 percent) such as tracheoesophageal fistula, esophageal atresia, intestinal atresia, imperforate anus
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| * Central nervous system abnormalities (<5 percent) involving the pituitary gland (eg, small, interrupted pituitary stalk syndrome), hydrocephalus, cerebellar hypoplasia, or absent corpus callosum. | |
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