Fanconi anemia physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]


The most common presenting features of FA are congenital malformations. Cytopenias are also common, and many patients eventually develop bone marrow failure. Common malignancies include myelodysplastic syndrome (MDS), leukemia, and solid tumors, especially squamous cell cancers (SCC).

Physical Examination

  • Congenital malformations are the most common presenting features of FA.

Appearance of the Patient

  • Patients with FA usually present with hypo/hyperpigmentation, café-au-lait spots, short staure and thumb or other radial abnormalities.

Vital Signs

  • Usually normal sometime patients present with fever due to superimposed infection.


  • Skin abnormalities in Fanconi anemia can include generalized hyperpigmentation on the trunk, neck, and intertriginous areas, the aforementioned café au lait spots, and hypopigmented areas. Delicate features can also be characteristic of patients.


  • Head and face - Microcephaly, hydrocephalus, micrognathia, peculiar face, bird face, flat head, frontal bossing, scaphocephaly, sloped forehead, choanal atresia.
  • Eyes - Small, strabismus, epicanthal folds, hypertelorism, ptosis, slanted, cataracts, astigmatism, blindness, epiphora, nystagmus, proptosis, small iris
  • Ears - Deaf (usually conductive), abnormal shape, atresia, dysplasia, low-set, large, small, infections, abnormal middle ear, absent drum, dimples, rotated, canal stenosis


  • Neck - Sprengel abnormality, short, low hairline, webbed


  • No significant chest findings present usually.


  • No significant CVS findings present usually.


GI system - High-arch palate, atresia (eg, esophagus, duodenum, jejunum), imperforate anus, tracheoesophageal fistula, Meckel diverticulum, umbilical hernia, hypoplastic uvula, abnormal biliary ducts, megacolon, abdominal diastasis, Budd-Chiari syndrome


Neck - Sprengel abnormality, short, low hairline, webbed.

Spine - Spina bifida (thoracic, lumbar, cervical, occult sacral), scoliosis, abnormal ribs, sacrococcygeal sinus, Klippel-Feil syndrome, vertebral anomalies, extra vertebrae.


  • Gonads may display the following abnormalities:
  • Males - Hypogenitalia, undescended testes, hypospadias, abnormal or absent testis, atrophic testes, azoospermia, phimosis, abnormal urethra, micropenis, delayed development
  • Females - Hypogenitalia; bicornuate uterus; aplasia of uterus and vagina; atresia of uterus, vagina, or ovary/ovaries


Neuromuscular findings are non significant.


Upper limb abnormalities can include the following features:

  • Thumbs - Absent or hypoplastic, supernumerary, bifid, rudimentary, short, low set, attached by a thread, triphalangeal, tubular, stiff, hyperextensible[1]
  • Radii - Absent or hypoplastic (only with abnormal thumbs [ie, terminal defects]), absent or weak pulse
  • Hands - Clinodactyly, hypoplastic thenar eminence, 6 fingers, absent first metacarpal, enlarged abnormal fingers, short fingers
  • Ulnae - Dysplastic

Lower limb Abnormalities can include the following features:

  • Feet - Toe syndactyly, abnormal toes, flat feet, short toes, clubfoot, 6 toes
  • Legs - Congenital hip dislocation, Perthes disease, coxa vara, abnormal femur, thigh osteoma, abnormal legs.


  1. Alter BP, Rosenberg PS, Brody LC (2007). "Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2". J Med Genet. 44 (1): 1–9. doi:10.1136/jmg.2006.043257. PMC 2597904. PMID 16825431.

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