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Disease Profile
Perrault 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.
<1 / 1 000 000
Age of onset
Adolescent
ICD-10
Q87.8
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)
Gonadal dysgenesis, XX type, with deafness; Ovarian dysgenesis with sensorineural deafness; Gonadal dysgenesis, XX type
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Summary
Perrault
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
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
|
Difficulty articulating speech
|
0001260 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
| Motor delay | 0001270 | |
| Sensorimotor neuropathy |
Nerve damage causing decreased feeling and movement
|
0007141 |
| Spastic diplegia | 0001264 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Gonadal dysgenesis | 0000133 | |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Increased circulating gonadotropin level |
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess
[ more ] |
0000837 |
| Limited extraocular movements | 0007941 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| 0000939 | ||
| Pes cavus |
High-arched foot
|
0001761 |
| Primary amenorrhea | 0000786 | |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Related diseases
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
|
|---|
|
Turner syndrome is the principle differential diagnosis (see this term).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Accord Alliance
531 Route 22 East #244
Whitehouse Station, NJ 08889
Telephone: 908-349-0534
Fax: 801-349-0534
E-mail: https://www.accordalliance.org/contact/email-us.html
Website: https://www.accordalliance.org/
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Perrault syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Perrault syndrome. Click on the link to view a sample search on this topic.
References
- Perrault syndrome. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/perrault-syndrome.
- Newman WG, Friedman TB, Conway GS. Perrault syndrome. GeneReviews. September 25, 2014; https://www.ncbi.nlm.nih.gov/books/NBK242617/.