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Disease Profile
Proud 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.
Unknown
Age of onset
Infancy
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)
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Corpus callosum, agenesis of, with abnormal genitalia; ACC with abnormal genitalia;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Proud
Symptoms
- Agenesis of the corpus callosum
- Severe
intellectual disability Seizures - Stiff and/or rigid muscles (
spasticity )
Other features may include
Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
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 | ||
Agenesis of |
0001274 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 |
Seizure | 0001250 | |
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
30%-79% of people have these symptoms | ||
Abnormal hair pattern |
Abnormal distribution of hair
|
0010720 |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Scoliosis | 0002650 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
5%-29% of people have these symptoms | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Renal dysplasia | 0000110 | |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
Tetraplegia |
Paralysis of all four limbs
|
0002445 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormally large globe |
Increased size of eyes
Large eyes
[ more ] |
0001090 |
Broad alveolar ridges | 0000187 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Global developmental delay | 0001263 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ] |
0001795 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Limb joint contracture |
Limb contractures
|
0003121 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
Optic atrophy | 0000648 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Spastic tetraplegia | 0002510 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
0001417 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.
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
-
National Organization of Disorders of the Corpus Callosum
PMB 363
18032-C Lemon Drive
Yorba Linda, CA 92886
Telephone: +1-714-747-0063
Fax: +1-714-693-0808
E-mail: [email protected]
Website: https://nodcc.org/
Organizations Providing General Support
-
The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC, DC 20006
Toll-free: 1-(800) 433-5255
Telephone: +1-202-534-3700
Fax: +1-202-534-3731
E-mail: [email protected]
Website: https://www.thearc.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 Proud syndrome. This website is maintained by the National Library of Medicine.
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 Proud syndrome. Click on the link to view a sample search on this topic.
References
- CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA. OMIM. September 2013; https://www.omim.org/entry/300004.
- Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet. April 1992; 43(1-2):458-466.
- ARX. Genetics Home Reference. August 2013; https://ghr.nlm.nih.gov/gene/ARX.
- Spasticity. MedlinePlus. February 2013; https://www.nlm.nih.gov/medlineplus/ency/article/003297.htm.
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