Clinical Signs and Symptoms
ORPHA:2842 Penoscrotal transposition
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 external genitalia HP:0000811
- Abnormality of the genital system HP:0000078
- Abnormality of the ureter HP:0000069
- Abnormality of the urethra HP:0000795
- Bilateral single transverse palmar creases HP:0007598
- Cardiomyopathy HP:0001638
- Cerebral cortical atrophy HP:0002120
- Clinodactyly of the 5th finger HP:0004209
- Hypospadias HP:0000047
- Micrognathia HP:0000347
- Pectus carinatum HP:0000768
- Penoscrotal transposition HP:0100600
- Renal agenesis HP:0000104
- Renal dysplasia HP:0000110
- Wide intermamillary distance HP:0006610
Very frequent
- Chin dimple HP:0010751
- Epicanthus HP:0000286
- Prominent occiput HP:0000269
- Shawl scrotum HP:0000049
Frequent
- Patellar aplasia HP:0006443
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.