[MIM 227 650]

Rare. Prevalence: 1/350.000. Autosomal recessive transmission. Large phenotypic heterogeneity, corresponding to a significant genetic heterogeneity involving one of the many FANC genes , all carried by autosomes except the FANCB gene linked to the X-chromosome (exceptional form affecting only boys). 15 genes are involved and known as FANCA, FANCB, FANCC, FANCD1 (also known as BRCA2 gene and involved in familial breast cancer), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM and FANCN. They are part of the FANC/BRCA repair pathway of acquired lesions of the DNA. The most frequently involved gene is FANCA. These mutations lead to chromosomal instability ("chromosome breakage") and an increased risk for neoplasms.

Clinical triad:

• short stature due to a harmonious growth retardation
• malformation syndrome: (sometimes of VACTERL type) (see this term)

-        facial dymorphism: triangular face, macrognathia, pseudohypertelorism (due to small eyes)

-        microcephaly (25 %)

-        aplasia of the thumbs with sometimes abnormal radius; congenital hip dislocation

-        urogenital malformations: single or horseshoe kidney, hypospadias, micropenis, uterine malposition, bicornuate uterus

-        digestive malformation: esophageal or duodenal atresia, imperforate anus

-        cardiac defects: patent ductus arteriosus, ASD, VSD, coarctation of the aorta

-        ear malformations: deformity of the ear, ear canal dysplasia, deafness due to anomalies of the ossicular chain

-        endocrine problems: hypogonadism, hirsutism, hyperinsulinism or diabetes mellitus, hypothyroidism (40-60%), osteopenia

-        'café-au-lait'or achromic spots, or areas of melanoderma.

• bone marrow failure: progressive pancytopenia with major risk of aplastic anemia, acute myeloid leukemia and solid tumors: clinical onset usually between 3 and 12 years of age.

High frequency of cancers of the head and neck, skin, esophagus region and gynecological that may appear as early as the 2nd or 3rd decade (regular monitoring).

Treatment: in case of pancytopenia, bone marrow or hematopoietic stem cells transplantation to be performed ideally before 10 years of age and before having received 20 transfusions of blood. The bone marrow conditioning before transplantation  treatment must be adapted to the increased cancer risk.

Anesthetic implications: 

check complete blood count, renal and endocrine function.

After bone marrow transplantation: anesthetic management of a transplanted patient (complete blood count, renal etc).

References : 

-        Jacob R, Venkatesan T. 
Anesthesia and Fanconi anemia : a case report and review of the literature. 
Pediatr Anesth 2006; 16: 981-5.

-         Lanneaux J, Poidvin A, Soole F, Leclerc G, Grimaud M, Dalle J-H. 
L’anémie de fanconi en 2012: diagnostic, suivi pédiatrique, traitement. 
Arch Pédiatr 2012 ; 19 :1100-09.

Updated: May 2019