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Disease Profile
Deafness enamel hypoplasia nail defects
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
Childhood
ICD-10
-
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)
Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects; Heimler syndrome; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 3220
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 | ||
Abnormal eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ] |
0000492 |
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormal hair quantity | 0011362 | |
Abnormal nasolacrimal system morphology | 0000614 | |
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Abnormality of nail color |
Abnormality of nail colour
|
0100643 |
0000819 | ||
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Decreased activity of gonads
|
0000135 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Pili torti |
Flattened and twisted hair
|
0003777 |
Sensorineural hearing impairment | 0000407 | |
Taurodontia | 0000679 | |
Thin eyebrow |
Thin eyebrows
|
0045074 |
30%-79% of people have these symptoms | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Large hands |
large hand
|
0001176 |
Primary amenorrhea | 0000786 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
High anterior hairline |
High frontal hairline
|
0009890 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Ichthyosis | 0008064 | |
Macular dystrophy | 0007754 | |
Muscle flaccidity | 0010547 | |
Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
Percent of people who have these symptoms is not available through HPO | ||
Amelogenesis imperfecta | 0000705 | |
0000007 | ||
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Leukonychia |
White discoloration of nails
|
0001820 |
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 Deafness enamel hypoplasia nail defects. Click on the link to view a sample search on this topic.