Rare Psychiatry News
Advertisement
Disease Profile
Kapur Toriello 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 >
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)
Long columella with cleft lip/palate and eye, heart and intestinal anomalies
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 2328
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 | ||
Bulbous nose | 0000414 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Iris coloboma |
Cat eye
|
0000612 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Oral cleft |
Cleft of the mouth
|
0000202 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Retinal coloboma |
Hole in the back of the eye
|
0000480 |
30%-79% of people have these symptoms | ||
Constipation | 0002019 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ] |
0000059 |
Intestinal malrotation | 0002566 | |
Short neck |
Decreased length of neck
|
0000470 |
5%-29% of people have these symptoms | ||
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Dysplastic |
0006989 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Patent ductus arteriosus | 0001643 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Preauricular skin tag | 0000384 | |
Tetralogy of Fallot | 0001636 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] |
0000079 |
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 | ||
Bilateral single transverse palmar creases | 0007598 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Clinodactyly of the 5th toe | 0001864 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Joint |
0009473 | |
Low hanging columella | 0009765 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Overlapping fingers | 0010557 | |
0002650 | ||
0001250 | ||
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Single transverse palmar crease | 0000954 |
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 Kapur Toriello syndrome. Click on the link to view a sample search on this topic.