Clinical Signs and Symptoms
ORPHA:96061 Mosaic trisomy 8
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.
- Intellectual disability, moderate HP:0002342
Very frequent
- Abnormality of the antihelix HP:0009738
- Abnormality of the pinna HP:0000377
- Abnormality of the ribs HP:0000772
- Anteverted nares HP:0000463
- Broad nasal tip HP:0000455
- Camptodactyly of finger HP:0100490
- Corneal opacity HP:0007957
- Deep palmar crease HP:0006191
- Deep plantar creases HP:0001869
- Deeply set eye HP:0000490
- Dolichocephaly HP:0000268
- Frontal bossing HP:0002007
- Hydronephrosis HP:0000126
- Hypertelorism HP:0000316
- Limitation of joint mobility HP:0001376
- Long face HP:0000276
- Macrotia HP:0000400
- Micrognathia HP:0000347
- Narrow chest HP:0000774
- Narrow pelvis bone HP:0003275
- Patellar aplasia HP:0006443
- Protruding ear HP:0000411
- Scoliosis HP:0002650
- Strabismus HP:0000486
- Vertebral segmentation defect HP:0003422
- Vesicoureteral reflux HP:0000076
- Wide nose HP:0000445
Frequent
- Abnormality of cardiovascular system morphology HP:0030680
- Agenesis of corpus callosum HP:0001274
- Arthrogryposis multiplex congenita HP:0002804
- Cleft palate HP:0000175
- Clinodactyly of the 5th finger HP:0004209
- Cryptorchidism HP:0000028
- Decreased testicular size HP:0008734
- Hearing impairment HP:0000365
- High palate HP:0000218
- Hypopigmentation of the skin HP:0001010
- Hypopigmented skin patches HP:0001053
- Short neck HP:0000470
- Short stature HP:0004322
- Tall stature HP:0000098
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.