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Disease Profile
Nasodigitoacoustic 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
-
ICD-10
Q87.0
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)
Keipert Syndrome
Categories
Congenital and Genetic Diseases
Summary
Orpha Number: 2662
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 | ||
Aplasia/Hypoplasia of the distal phalanges of the toes |
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe
[ more ] |
0010185 |
Broad distal phalanx of finger |
Broad outermost finger bone
|
0009836 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Sensorineural hearing impairment | 0000407 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short hallux |
Short big toe
|
0010109 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Aplastic/hypoplastic toenail |
Absent/small toenails
Absent/underdeveloped toenails
[ more ] |
0010624 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Exaggerated cupid's bow |
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip
[ more ] |
0002263 |
Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Drooping upper eyelid
|
0000508 | |
Tented upper lip vermilion | 0010804 | |
5%-29% of people have these symptoms | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the nail | 0001597 | |
0000006 | ||
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Enlarged epiphyses |
Large end part of bone
|
0010580 |
Frontal bossing | 0002007 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Low hanging columella | 0009765 | |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Rounded epiphyses |
Rounded end part of bone
|
0006026 |
Short 3rd metacarpal |
Shortened 3rd long bone of hand
|
0010041 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ] |
0000215 |
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 Nasodigitoacoustic syndrome. Click on the link to view a sample search on this topic.