FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANG, FANCI, ERCC4, FANCL, MAD2L2, UBE2T, SLX4 genes<\/p>\n
Also known as: Fanconi pancytopenia<\/em><\/p>\n Includes:<\/strong><\/p>\n – OMIM#227650<\/strong> https:\/\/omim.org\/entry\/227650<\/a><\/p>\n – OMIM#300514<\/strong> https:\/\/omim.org\/entry\/300514<\/a><\/p>\n – OMIM#227645<\/strong> https:\/\/omim.org\/entry\/227645<\/p>\n – OMIM#227646<\/strong> https:\/\/omim.org\/entry\/227646<\/p>\n – OMIM#603467<\/strong> https:\/\/omim.org\/entry\/603467<\/a><\/p>\n – OMIM#600901<\/strong> https:\/\/omim.org\/entry\/600901<\/p>\n – OMIM#614082<\/strong> https:\/\/omim.org\/entry\/614082<\/p>\n – OMIM#609053<\/strong> https:\/\/omim.org\/entry\/609053<\/a><\/p>\n – OMIM#615272<\/strong> https:\/\/omim.org\/entry\/615272<\/p>\n – OMIM#614083<\/strong> https:\/\/omim.org\/entry\/614083<\/p>\n – OMIM#617243<\/strong> https:\/\/omim.org\/entry\/617243<\/a><\/p>\n – OMIM#616435<\/strong> https:\/\/omim.org\/entry\/616435<\/a><\/p>\n – OMIM#613951<\/strong> https:\/\/omim.org\/entry\/613951<\/p>\n A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations, and predisposition to develop hematological or solid tumors.<\/p>\n The first signs of Fanconi anaemia (FA) are typically non-haematological features. Limb anomalies typically affect the extremities, are unilateral or (usually asymmetric) bilateral. Minor anomalies can also be present such as low birth length and weight, microcephaly and\/or microphthalmia. Skin pigmentation abnormalities (caf\u00e9-au-lait spots) and hypoplastic thenar eminence are frequent. Lack of early signs or symptoms does not exclude the diagnosis.<\/em><\/p>\n1. The disease:<\/h4>\n
2. The symptoms:<\/h4>\n
\n
3. Actions to take in case of early diagnosis:<\/h4>\n
\n
4. For more information:<\/strong><\/h4>\n