What are the signs and symptoms of Fanconi anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome stability 90% Anemia 90% Aplasia/Hypoplasia of the radius 90% Bone marrow hypocellularity 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Leukopenia 90% Short stature 90% Thrombocytopenia 90% Blepharophimosis 50% Cognitive impairment 50% Microcephaly 50% Scoliosis 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the femur 7.5% Abnormality of the hip bone 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the liver 7.5% Abnormality of the preputium 7.5% Abnormality of the ulna 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the uvula 7.5% Arteriovenous malformation 7.5% Astigmatism 7.5% Atria septal defect 7.5% Cafe-au-lait spot 7.5% Cataract 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Clubbing of toes 7.5% Cranial nerve paralysis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Dolichocephaly 7.5% Duodenal stenosis 7.5% Epicanthus 7.5% External ear malformation 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Frontal bossing 7.5% Functional abnormality of male internal genitalia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Hypertrophic cardiomyopathy 7.5% Intrauterine growth retardation 7.5% Meckel diverticulum 7.5% Myelodysplasia 7.5% Nystagmus 7.5% Oligohydramnios 7.5% Patent ductus arteriosus 7.5% Pes planus 7.5% Proptosis 7.5% Ptosis 7.5% Recurrent urinary tract infections 7.5% Reduced bone mineral density 7.5% Renal hypoplasia/aplasia 7.5% Renal insufficiency 7.5% Sloping forehead 7.5% Spina bifida 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Toe syndactyly 7.5% Tracheoesophageal fistula 7.5% Triphalangeal thumb 7.5% Umbilical hernia 7.5% Upslanted palpebral fissure 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Weight loss 7.5% Abnormality of cardiovascular system morphology - Abnormality of skin pigmentation - Absent radius - Absent thumb - Anemic pallor - Bruising susceptibility - Chromosomal breakage induced by crosslinking agents - Complete duplication of thumb phalanx - Deficient excision of UV-induced pyrimidine dimers in DNA - Duplicated collecting system - Ectopic kidney - Horseshoe kidney - Hypergonadotropic hypogonadism - Intellectual disability - Leukemia - Microphthalmia - Neutropenia - Pancytopenia - Prolonged G2 phase of cell cycle - Renal agenesis - Reticulocytopenia - Short thumb - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.