Clinical Signs and Symptoms
ORPHA:52022 Potocki-Shaffer 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.
- Brachycephaly HP:0000248
- Broad nasal tip HP:0000455
- Decreased skull ossification HP:0004331
- Depressed nasal tip HP:0000437
- Epicanthus HP:0000286
- Exostoses HP:0100777
- Global developmental delay HP:0001263
- Micrognathia HP:0000347
- Prominent nasal bridge HP:0000426
- Underdeveloped nasal alae HP:0000430
Very frequent
- Downturned corners of mouth HP:0002714
- Micropenis HP:0000054
- Nystagmus HP:0000639
- Parietal foramina HP:0002697
- Seizures HP:0001250
- Short philtrum HP:0000322
- Strabismus HP:0000486
Frequent
- Anemia HP:0001903
- Delayed puberty HP:0000823
- Hypertension HP:0000822
- Hypothyroidism HP:0000821
- Intellectual disability HP:0001249
- Nephroblastoma HP:0002667
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.