This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High forehead | 0000348 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Smooth philtrum | 0000319 | |
| Specific learning disability | 0001328 | |
| Tall stature |
Increased body height
|
0000098 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 30%-79% of people have these symptoms | ||
| Abnormal pancreas morphology |
Abnormally shaped pancreas
|
0012090 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Broad alveolar ridges | 0000187 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hyperinsulinemia | 0000842 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Nephroblastoma | 0002667 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Thickened helices | 0000391 | |
| 5%-29% of people have these symptoms | ||
| Bilateral single transverse palmar creases | 0007598 | |
| Capillary hemangioma |
Strawberry birthmark
|
0005306 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Femoral hernia | 0100541 | |
| Inguinal hernia | 0000023 | |
| Naevus flammeus of the eyelid |
Port-wine stain on eyelid
|
0010733 |
|
Drooping upper eyelid
|
0000508 | |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
| Agenesis of |
0001274 | |
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| 0000007 | ||
| 0000776 | ||
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Distal ileal atresia | 0200116 | |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hypoplasia of the abdominal wall musculature | 0005247 | |
| Interrupted aortic arch | 0011611 | |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ]
|
0011341 |
| Nephroblastomatosis | 0008643 | |
| Nephrogenic rest | 0100880 | |
| Pancreatic islet- |
0004510 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Renal hamartoma | 0008696 | |
| Tented upper lip vermilion | 0010804 | |
| Visceromegaly | 0003271 | |
| Volvulus | 0002580 | |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The principle differential diagnoses are the Beckwith-Wiedemann (BWS) and Simpson-Golabi-Behmel syndromes (see these terms): mutations the GPC3 gene were excluded as being causative anomalies in several publications and genetic or epigenetic alterations of the 11p15 region (involved in BWS) have never been reported in patients with Perlman syndrome, despite the strong phenotypic similarities between the two syndromes.
Visit the
Orphanet disease page
for more information.
|
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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