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Disease Profile
Pseudotrisomy 13 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
Neonatal
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)
Holoprosencephaly polydactyly syndrome; Pseudo trisomy 13 syndrome; Young-Maders syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 2166
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 | ||
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplasia of the premaxilla |
Hypoplasia of the primary palate bone
Premaxillary bone deficiency
Primary palate bone deficiency
Small premaxilla
Small primary palate bone
Underdevelopment of the premaxilla
Underdevelopment of the primary palate bone
[ more ] |
0010650 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormal lung lobation | 0002101 | |
Abnormality of the hypothalamus-pituitary axis | 0000864 | |
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anal atresia |
Absent anus
|
0002023 |
Aplasia/Hypoplasia of the |
0007370 | |
Cleft roof of mouth
|
0000175 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Holoprosencephaly | 0001360 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypospadias | 0000047 | |
Low-set, posteriorly rotated ears | 0000368 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Thyroid hypoplasia |
Small thyroid gland
|
0005990 |
5%-29% of people have these symptoms | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Absent nares |
Missing nostrils
|
0100596 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Cyclopia |
Single central eye
Cyclops eye
[ more ] |
0009914 |
Encephalocele | 0002084 | |
Intestinal malrotation | 0002566 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Omphalocele | 0001539 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
Talipes | 0001883 | |
Umbilical hernia | 0001537 | |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormality of the respiratory system | 0002086 | |
Agenesis of corpus callosum | 0001274 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
0000007 | ||
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Complete atrioventricular canal defect | 0001674 | |
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Polymicrogyria |
More grooves in brain
|
0002126 |
Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Tricuspid atresia | 0011662 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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
-
The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
Texas Scottish Rite Hospital for Children, Department of Neurology
2222 Welborn Street
Dallas, TX 75219-3993
Toll-free: (800) 421-1121
Telephone: (214) 559-8411
E-mail: [email protected]
Website: https://www.hperesearch.org/index.html
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 Pseudotrisomy 13 syndrome. Click on the link to view a sample search on this topic.
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