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Traits
Traits linked to FANCC
FA complementation group C
The Human Phenotype Ontology links 131 traits to FANCC, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormally shaped kidney | Often (30–79%) |
| Urinary tract abnormalities | Often (30–79%) |
| Abnormal localisation of kidneys | Sometimes (5–29%) |
| Abnormal preputium morphology | Sometimes (5–29%) |
| Abnormality of the testis | Sometimes (5–29%) |
| Abnormality of the uterus | Sometimes (5–29%) |
| Absent sperm in semen | Sometimes (5–29%) |
| Absent testes | Sometimes (5–29%) |
| Absent/small kidney | Sometimes (5–29%) |
| Decreased fertility in males | Sometimes (5–29%) |
| Frequent urinary tract infections | Sometimes (5–29%) |
| Heart shaped uterus | Sometimes (5–29%) |
| Hydroureter | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Abnormal kidney location | Not recorded |
| Absent kidney | Not recorded |
| Duplicated collecting system | Not recorded |
| Horseshoe kidney | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the thumb | Very often (80–99%) |
| Abnormality of the upper limb | Very often (80–99%) |
| Aplasia/Hypoplasia of the radius | Very often (80–99%) |
| Absent thumb | Often (30–79%) |
| Missing outer large bone of forearm | Often (30–79%) |
| Abnormal feet structure | Sometimes (5–29%) |
| Abnormal morphology of ulna | Sometimes (5–29%) |
| Abnormality of the thighbone | Sometimes (5–29%) |
| Absent/small fingers | Sometimes (5–29%) |
| Clubbed toes | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| Finger syndactyly | Sometimes (5–29%) |
| Finger-like thumb | Sometimes (5–29%) |
| Fused toes | Sometimes (5–29%) |
| Hip dislocation | Sometimes (5–29%) |
| Underdeveloped inner large forearm bone | Sometimes (5–29%) |
| Complete duplication of thumb bones | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Eye folds | Always |
| Triangular face | Always |
| Abnormally small head | Often (30–79%) |
| Almond shaped eyes | Often (30–79%) |
| Short opening between the eyelids | Often (30–79%) |
| Abnormality of the eyelid | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the uvula | Sometimes (5–29%) |
| Blockage of the rear opening of the nasal cavity | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Facial asymmetry | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Little lower jaw | Sometimes (5–29%) |
| Long, narrow head | Sometimes (5–29%) |
| Sloping forehead | Sometimes (5–29%) |
| Upward slanting of the opening between the eyelids | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye | Sometimes (5–29%) |
| Abnormality of vision | Sometimes (5–29%) |
| Abnormally small eyeball | Sometimes (5–29%) |
| Absent/small iris | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Bulging eye | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Visual impairment | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Bone marrow failure | Always |
| Low blood cell count | Always |
| Low blood neutrophil count | Always |
| Low number of red blood cells or hemoglobin | Always |
| Low platelet count | Always |
| Abnormality of blood and blood-forming tissues | Very often (80–99%) |
| Decreased blood leukocyte number | Very often (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Very often (80–99%) |
| Myelodysplasia | Sometimes (5–29%) |
| Bruising susceptibility | Not recorded |
| Reticulocytopenia | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Hole in heart wall separating two lower heart chambers | Always |
| Abnormal cardiac septum morphology | Often (30–79%) |
| Abnormal aortic morphology | Sometimes (5–29%) |
| Abnormal aortic valve morphology | Sometimes (5–29%) |
| Abnormal carotid artery morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Arteriovenous malformation | Sometimes (5–29%) |
| Enlarged and thickened heart muscle | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Tetralogy of Fallot | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Always |
| Hypopigmented macule | Always |
| Patchy darkened skin | Always |
| Abnormal skin pigmentation | Very often (80–99%) |
| Irregular hyperpigmentation | Very often (80–99%) |
| Patchy loss of skin color | Very often (80–99%) |
| Multiple birthmarks | Sometimes (5–29%) |
| Anemic pallor | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Abnormal shape of nervous system | Sometimes (5–29%) |
| Cranial nerve paralysis | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormal connection between trachea and esophagus | Sometimes (5–29%) |
| Abnormality of the liver | Sometimes (5–29%) |
| Absent anus | Sometimes (5–29%) |
| Duodenal stenosis | Sometimes (5–29%) |
| Enlarged colon lacking nerve cells | Sometimes (5–29%) |
| Meckel diverticulum | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Always |
| Short stature | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
| Weight loss | Sometimes (5–29%) |
| Small for gestational age | Not recorded |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Always |
| Abnormality of chromosome stability | Very often (80–99%) |
| Deficient excision of UV-induced pyrimidine dimers in DNA | Not recorded |
| Prolonged G2 phase of cell cycle | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Anterior wedging of T12 | Always |
| Flexed joint that cannot be straightened | Always |
| Scoliosis | Often (30–79%) |
| Low solidness and mass of the bones | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormally shaped ears | Sometimes (5–29%) |
| Hearing abnormality | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Sometimes (5–29%) |
| Decreased activity of gonads | Sometimes (5–29%) |
| Hypergonadotropic hypogonadism | Not recorded |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Sometimes (5–29%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to FANCC and how often each is seen. Find out more at hpo.jax.org.
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