Clinical Signs and Symptoms
ORPHA:567 22q11.2 deletion syndrome
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 aortic arch morphology HP:0012303
- Abnormal facial shape HP:0001999
- Abnormal pulmonary valve morphology HP:0001641
- Abnormality of the pharynx HP:0000600
- Atrial septal defect HP:0001631
- Bulbous nose HP:0000414
- Cleft palate HP:0000175
- Conductive hearing impairment HP:0000405
- Dysphasia HP:0002357
- Epicanthus HP:0000286
- Hypoplasia of the thymus HP:0000778
- Hypotonia HP:0001252
- Immunodeficiency HP:0002721
- Low-set ears HP:0000369
- Malformation of the heart and great vessels HP:0002564
- Nasal speech HP:0001611
- Platybasia HP:0002691
- Prominent nasal bridge HP:0000426
- Telecanthus HP:0000506
- Tetralogy of Fallot HP:0001636
- Truncus arteriosus HP:0001660
- Upslanted palpebral fissure HP:0000582
- Ventricular septal defect HP:0001629
- Wide nasal bridge HP:0000431
Very frequent
- Abnormal eyelid morphology HP:0000492
- Abnormal skull morphology HP:0000929
- Abnormality of the dentition HP:0000164
- Abnormality of the tonsils HP:0100765
- Acne HP:0001061
- Anorectal anomaly HP:0012732
- Arachnodactyly HP:0001166
- Attention deficit hyperactivity disorder HP:0007018
- Carious teeth HP:0000670
- Chronic otitis media HP:0000389
- Constipation HP:0002019
- Corneal neovascularization HP:0011496
- Global developmental delay HP:0001263
- Hearing impairment HP:0000365
- Hypocalcemia HP:0002901
- Hypoparathyroidism HP:0000829
- Impaired T cell function HP:0005435
- Intellectual disability, mild HP:0001256
- Long face HP:0000276
- Long philtrum HP:0000343
- Malar flattening HP:0000272
- Meningocele HP:0002435
- Myalgia HP:0003326
- Occipital myelomeningocele HP:0007271
- Overfolded helix HP:0000396
- Posterior embryotoxon HP:0000627
- Ptosis HP:0000508
- Renal hypoplasia HP:0000089
- Seborrheic dermatitis HP:0001051
- Short neck HP:0000470
- Short stature HP:0004322
- Small earlobe HP:0000385
- Specific learning disability HP:0001328
- Tetany HP:0001281
Frequent
- Abnormal aortic valve morphology HP:0001646
- Abnormality of dental enamel HP:0000682
- Abnormality of the thorax HP:0000765
- Abnormality of the uterus HP:0000130
- Abnormality of thrombocytes HP:0001872
- Aganglionic megacolon HP:0002251
- Anal atresia HP:0002023
- Anxiety HP:0000739
- Arrhinencephaly HP:0002139
- Arthritis HP:0001369
- Asthma HP:0002099
- Atelectasis HP:0100750
- Autism HP:0000717
- Autoimmunity HP:0002960
- Behavioral abnormality HP:0000708
- Bipolar affective disorder HP:0007302
- Bowel incontinence HP:0002607
- Cataract HP:0000518
- Choanal atresia HP:0000453
- Cholelithiasis HP:0001081
- Chronic obstructive pulmonary disease HP:0006510
- Cryptorchidism HP:0000028
- Depression HP:0000716
- Downslanted palpebral fissures HP:0000494
- Failure to thrive HP:0001508
- Feeding difficulties in infancy HP:0008872
- Foot polydactyly HP:0001829
- Gastroesophageal reflux HP:0002020
- Gastrointestinal hemorrhage HP:0002239
- Glaucoma HP:0000501
- Hand polydactyly HP:0001161
- Hydrocephalus HP:0000238
- Hypertelorism HP:0000316
- Hypertensive crisis HP:0100735
- Hyperthyroidism HP:0000836
- Hypopigmented skin patches HP:0001053
- Hypospadias HP:0000047
- Hypothyroidism HP:0000821
- Inguinal hernia HP:0000023
- Intellectual disability HP:0001249
- Intestinal malrotation HP:0002566
- Intrauterine growth retardation HP:0001511
- Joint hyperflexibility HP:0005692
- Laryngomalacia HP:0001601
- Lung segmentation defects HP:0006525
- Microcephaly HP:0000252
- Micrognathia HP:0000347
- Microphthalmia HP:0000568
- Multiple renal cysts HP:0005562
- Multiple suture craniosynostosis HP:0011324
- Narrow mouth HP:0000160
- Obesity HP:0001513
- Optic atrophy HP:0000648
- Patellar dislocation HP:0002999
- Patent ductus arteriosus HP:0001643
- Polycystic kidney dysplasia HP:0000113
- Polyhydramnios HP:0001561
- Purpura HP:0000979
- Retinal arteriolar tortuosity HP:0001136
- Schizophrenia HP:0100753
- Scoliosis HP:0002650
- Seizure HP:0001250
- Short philtrum HP:0000322
- Spina bifida HP:0002414
- Splenomegaly HP:0001744
- Strabismus HP:0000486
- Talipes equinovarus HP:0001762
- Thrombocytopenia HP:0001873
- Tricuspid atresia HP:0011662
- Turricephaly HP:0000262
- Umbilical hernia HP:0001537
- Varicose veins HP:0002619
- Vesicoureteral reflux HP:0000076
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.