Fanconi anemia, dyskeratosis congenita, and WT syndrome.
The association of congenital anomalies and pancytopenia is encountered in several clinical syndromes. Among these, Fanconi anemia is by far the most prevalent, and consequently best known. As a result, other similar conditions, such as dyskeratosis congenita and particularly WT syndrome, are often mistaken for Fanconi anemia. However, at a closer look, the type of congenital anomalies, the mode of inheritance, cytogenic and other laboratory findings allow clear differentiation between these 3 syndromes.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000741:Anemia, Aplastic / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007633:Keratins / Q000378:metabolism*; D008297:Male; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
D007633:Keratins