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  3. Perlman syndrome
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Perlman syndrome


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Other Names:
Nephroblastomatosis fetal ascites macrosomia and wilms tumor; Renal hamartomas, nephroblastomatosis, and fetal gigantism
Categories:
Congenital and Genetic Diseases; Hereditary Cancer Syndromes; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Hereditary Cancer Syndromes; Kidney and Urinary Diseases; Rare Cancers See More

Summary Summary


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Perlman syndrome is a rare condition that affects the kidneys. People with this condition are generally born with renal abnormalities and have an increased risk for Wilms tumor, a rare kidney cancer that primarily affects children. Other signs and symptoms include a large birth size, low-muscle tone, characteristic facial features and developmental delay. Although the exact cause of Perlman syndrome is currently unknown, it appears to follow an autosomal recessive pattern of inheritance. Treatment is supportive and based on the signs and symptoms present in each person.[1][2]
Last updated: 10/4/2016

Symptoms Symptoms


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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.

Showing of 58 |
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 developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
High forehead 0000348
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Muscular hypotonia
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
Ptosis
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 corpus callosum 0001274
Ascites
Accumulation of fluid in the abdomen
0001541
Autosomal recessive inheritance 0000007
Congenital diaphragmatic hernia 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-cell hyperplasia 0004510
Polyhydramnios
High levels of amniotic fluid
0001561
Renal hamartoma 0008696
Tented upper lip vermilion 0010804
Visceromegaly 0003271
Volvulus 0002580
Showing of 58 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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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.

Learn More Learn More


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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.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Perlman syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Perlman syndrome. OMIM. September 2016; http://www.omim.org/entry/267000.
  2. Neri G, Martini-Neri ME, Katz BE, Opitz JM. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet A. November 2013; 161A(11):2691-2696.
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