Fanconi anemia

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Fan·co·ni syn·drome

(fahn-kō'nē), [MIM*227650-227660]
1. a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types [MIM*227650, 227600, 227645, 227646, 600901]); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. Synonym(s): congenital aplastic anemia, congenital pancytopenia, Fanconi anemia, Fanconi pancytopenia
2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.

Fan·co·ni a·ne·mi·a

(fahn-kō'nē ă-nē'mē-ă)
A type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia.
Synonym(s): Fanconi syndrome (1) .

Fanconi,

Guido, Swiss pediatrician, 1892-1979.
De Toni-Fanconi syndrome - see under De Toni
Debré-De Toni-Fanconi syndrome - Synonym(s): Fanconi syndrome
Fanconi-Albertini-Zellweger syndrome - syndrome characterized by multiple conditions including congenital heart defect, microdontia, metabolic acidosis, and bone-related problems as well as growth retardation.
Fanconi anemia - a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies. Synonym(s): congenital aplastic anemia; congenital pancytopenia; Fanconi pancytopenia; Fanconi syndrome (1)
Fanconi pancytopenia - Synonym(s): Fanconi anemia (1)
Fanconi syndrome (1) - Synonym(s): Fanconi anemia; - (2) a group of conditions with characteristic disorders of renal tubular function.Synonym(s): Debré-De Toni-Fanconi syndrome
Lignac-Fanconi syndrome - see under Lignac
Wissler-Fanconi syndrome - see under Wissler
References in periodicals archive ?
X-linked inheritance of Fanconi anaemia complementation group B.
In South Africa, the relative increased incidence of Fanconi anaemia in our population of Afrikaner descent must alert the clinician to the relevant testing in any patient with features of VA owing to the considerable overlap of features, especially the radial ray abnormality.
Fanconi anaemia, on the other hand, is characterised by progressive anaemia, congenital malformations and a high risk of developing leukaemia and mouth tumours.
She is diagnosed with Fanconi Anaemia, a rare genetic disorder that can cause bone marrow failure.
EMMERDALE ITV1 Debbie and Andy finally learn what's wrong with Sarah as she is diagnosed with Fanconi Anaemia, a rare genetic disorder that can cause bone marrow failure and predisposition to cancer.
EMMERDALE (ITV1) DEBBIE and Andy finally learn what's wrong with Sarah as she is diagnosed with Fanconi Anaemia, a rare genetic disorder that can cause bone marrow failure and predisposition to cancer.
Alex suffers from a rare genetic blood disorder called Fanconi anaemia, which causes bone marrow failure.
They had a daughter, Jessica, who had died from the condition - Fanconi anaemia - and a son, Alexander, who had been diagnosed with it.
Children with Fanconi anaemia have also been reported to have considerably higher serum erythropoietin levels than children with haemolysis for the same degree of anaemia [20].
The stem cells were artificially created by reprogramming skin cells taken from patients with a rare inherited blood disease called Fanconi anaemia (FA).
Children who inherited two damaged copies of the gene, one from each parent, were also found to suffer from a newly-identified serious disorder ( Fanconi anaemia (FA) ( linked to childhood tumours.