Clinical Signs and Symptoms
ORPHA:84 Fanconi anemia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal thumb morphology HP:0001172
- Abnormality of blood and blood-forming tissues HP:0001871
- Abnormality of chromosome stability HP:0003220
- Abnormality of skin pigmentation HP:0001000
- Abnormality of the upper limb HP:0002817
- Anemia HP:0001903
- Aplasia/Hypoplasia of the radius HP:0006501
- Hypopigmented skin patches HP:0001053
- Irregular hyperpigmentation HP:0007400
- Leukopenia HP:0001882
- Pyridoxine-responsive sideroblastic anemia HP:0005522
- Short stature HP:0004322
- Thrombocytopenia HP:0001873
Very frequent
- Abnormal cardiac septum morphology HP:0001671
- Abnormal renal morphology HP:0012210
- Abnormality of the urinary system HP:0000079
- Almond-shaped palpebral fissure HP:0007874
- Global developmental delay HP:0001263
- Intellectual disability HP:0001249
- Microcephaly HP:0000252
- Neoplasm HP:0002664
- Scoliosis HP:0002650
- Short palpebral fissure HP:0012745
Frequent
- Abnormal aortic morphology HP:0001679
- Abnormal aortic valve morphology HP:0001646
- Abnormal eyelid morphology HP:0000492
- Abnormal localization of kidney HP:0100542
- Abnormal testis morphology HP:0000035
- Abnormality of femur morphology HP:0002823
- Abnormality of nervous system morphology HP:0012639
- Abnormality of the carotid arteries HP:0005344
- Abnormality of the eye HP:0000478
- Abnormality of the foot HP:0001760
- Abnormality of the hypothalamus-pituitary axis HP:0000864
- Abnormality of the liver HP:0001392
- Abnormality of the preputium HP:0100587
- Abnormality of the ulna HP:0002997
- Abnormality of the uterus HP:0000130
- Abnormality of vision HP:0000504
- Absent testis HP:0010469
- Aganglionic megacolon HP:0002251
- Anal atresia HP:0002023
- Aplasia/Hypoplasia of fingers HP:0006265
- Aplasia/Hypoplasia of the iris HP:0008053
- Aplasia/Hypoplasia of the uvula HP:0010293
- Arteriovenous malformation HP:0100026
- Astigmatism HP:0000483
- Atrial septal defect HP:0001631
- Azoospermia HP:0000027
- Bicornuate uterus HP:0000813
- Cataract HP:0000518
- Choanal atresia HP:0000453
- Cleft palate HP:0000175
- Clinodactyly of the 5th finger HP:0004209
- Clubbing of toes HP:0100760
- Cranial nerve paralysis HP:0006824
- Cryptorchidism HP:0000028
- Decreased fertility in males HP:0012041
- Dolichocephaly HP:0000268
- Duodenal stenosis HP:0100867
- Epicanthus HP:0000286
- External ear malformation HP:0008572
- Facial asymmetry HP:0000324
- Finger syndactyly HP:0006101
- Frontal bossing HP:0002007
- Growth delay HP:0001510
- Hearing abnormality HP:0000364
- Hearing impairment HP:0000365
- High palate HP:0000218
- Hip dislocation HP:0002827
- Hydrocephalus HP:0000238
- Hydroureter HP:0000072
- Hyperreflexia HP:0001347
- Hypertelorism HP:0000316
- Hypertrophic cardiomyopathy HP:0001639
- Hypogonadism HP:0000135
- Hypoplasia of the ulna HP:0003022
- Hypospadias HP:0000047
- Intrauterine growth retardation HP:0001511
- Meckel diverticulum HP:0002245
- Micrognathia HP:0000347
- Microphthalmia HP:0000568
- Multiple cafe-au-lait spots HP:0007565
- Myelodysplasia HP:0002863
- Nystagmus HP:0000639
- Oligohydramnios HP:0001562
- Patent ductus arteriosus HP:0001643
- Pes planus HP:0001763
- Proptosis HP:0000520
- Ptosis HP:0000508
- Recurrent urinary tract infections HP:0000010
- Reduced bone mineral density HP:0004349
- Renal hypoplasia/aplasia HP:0008678
- Renal insufficiency HP:0000083
- Sloping forehead HP:0000340
- Spina bifida HP:0002414
- Strabismus HP:0000486
- Tetralogy of Fallot HP:0001636
- Toe syndactyly HP:0001770
- Tracheoesophageal fistula HP:0002575
- Triphalangeal thumb HP:0001199
- Umbilical hernia HP:0001537
- Upslanted palpebral fissure HP:0000582
- Ventriculomegaly HP:0002119
- Visual impairment HP:0000505
- Weight loss HP:0001824
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.