Clinical Signs and Symptoms
ORPHA:2849 Perlman 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.
- Abnormality of upper lip HP:0000177
- Deeply set eye HP:0000490
- Global developmental delay HP:0001263
- Hepatomegaly HP:0002240
- High forehead HP:0000348
- Intellectual disability HP:0001249
- Macrocephaly HP:0000256
- Micrognathia HP:0000347
- Muscular hypotonia HP:0001252
- Open mouth HP:0000194
- Retrognathia HP:0000278
- Round face HP:0000311
- Short nose HP:0003196
- Smooth philtrum HP:0000319
- Specific learning disability HP:0001328
- Tall stature HP:0000098
- Wide nasal bridge HP:0000431
Very frequent
- Abnormal pancreas morphology HP:0012090
- Anteverted nares HP:0000463
- Broad alveolar ridges HP:0000187
- Cryptorchidism HP:0000028
- Epicanthus HP:0000286
- High, narrow palate HP:0002705
- Hyperinsulinemia HP:0000842
- Hypoplasia of penis HP:0008736
- Low-set ears HP:0000369
- Nephroblastoma HP:0002667
- Posteriorly rotated ears HP:0000358
- Thickened helices HP:0000391
Frequent
- Bilateral single transverse palmar creases HP:0007598
- Capillary hemangioma HP:0005306
- Dolichocephaly HP:0000268
- Femoral hernia HP:0100541
- Inguinal hernia HP:0000023
- Naevus flammeus of the eyelid HP:0010733
- Ptosis HP:0000508
- Seizures HP:0001250
- Status epilepticus HP:0002133
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.