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Disease Profile

Perlman syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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;

Summary

Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms tumor, a rare kidney cancer that primarily affects children. Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3][4]

Symptoms

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 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 isletcell hyperplasia
0004510
Polyhydramnios
High levels of amniotic fluid
0001561
Renal hamartoma
0008696
Tented upper lip vermilion
0010804
Visceromegaly
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Cause

Perlman syndrome occurs when the DIS3L2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[2][4] 

Learn more

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.

References

  1. Perlman syndrome. OMIM. September 2016; https://www.omim.org/entry/267000.
  2. Morris MR, Astuti D, Maher ER. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. Am J Med Genet C Semin Med Genet. May 2013; 63C(2):106-13. https://pubmed.ncbi.nlm.nih.gov/23613427/.
  3. Soma N, Higasimoto K, Imamura M, Saitoh A, Soejima H, Nagasaki K. Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2. Am J Med Genet A. Apr 2017; 173(4):1077-1081. https://pubmed.ncbi.nlm.nih.gov/28328139/.
  4. Astuti D, Morris M, Cooper WN, Staals RH, Wake NC, Fews GA, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. Feb 5, 2012; 44(3):277-84. https://pubmed.ncbi.nlm.nih.gov/22306653/.

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