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Disease Profile
Perlman syndrome
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 | <
Related diseasesRelated 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.
Learn moreThese 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
References
Rare Immunology News |