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Disease Profile
Thakker-Donnai 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
Antenatal
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)
Dysmorphism multiple structural anomalies; Dysmorphic facial features and multiple structural abnormalities
Categories
Congenital and Genetic Diseases
Summary
Orpha Number: 1780
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 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Bulbous nose | 0000414 | |
Cervical C2/C3 vertebral fusion | 0004602 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ] |
0000637 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow mouth |
Small mouth
|
0000160 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Short neck |
Decreased length of neck
|
0000470 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Webbed neck |
Neck webbing
|
0000465 |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Anal atresia |
Absent anus
|
0002023 |
Communicating |
0001334 | |
0000776 | ||
Hydronephrosis | 0000126 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Macrotia |
Large ears
|
0000400 |
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
Tetralogy of Fallot | 0001636 | |
Tracheoesophageal fistula | 0002575 | |
Transposition of the great arteries | 0001669 | |
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 | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormalities of placenta or umbilical cord | 0001194 | |
0000007 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 |
Long ear |
Long ears
|
0400004 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
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 |
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 Thakker-Donnai syndrome. Click on the link to view a sample search on this topic.