Rare Endocrinology News
Disease Profile
Lacrimo-auriculo-dento-digital 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)
LADD syndrome; Levy Hollister syndrome; Lacrimoauriculodento-digital syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Orpha Number: 2363
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
2-3 finger |
Webbed 2nd-3rd fingers
|
0001233 |
Absence of Stensen duct | 0000198 | |
Absent lacrimal punctum | 0001092 | |
Absent proximal phalanx of thumb |
Absent innermost thumb bone
|
0009637 |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Alacrima |
Absence of tears in the eyes
Absent tear secretion
[ more ] |
0000522 |
Aplasia of the parotid gland | 0009740 | |
0000006 | ||
Bilateral triphalangeal thumbs | 0005707 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Conical incisor |
Cone shaped front tooth
Shark tooth incisor
[ more ] |
0011065 |
Corneal perforation | 0100583 | |
Coronal hypospadias | 0008743 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
Dacryocystitis | 0000620 | |
Delayed eruption of primary teeth |
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ] |
0000680 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the lacrimal punctum | 0007892 | |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Hypoplastic lacrimal duct |
Underdeveloped tear duct
|
0007900 |
Lacrimal gland aplasia |
Absent tear gland
|
0007656 |
Lacrimal gland hypoplasia |
Underdeveloped tear gland
|
0007732 |
Limbal |
0032107 | |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
Nephrosclerosis |
Scarring of kidney arteries
Thickening of kidney artiries
[ more ] |
0009741 |
Partial |
Partial duplication of the thumb bones
|
0009944 |
Periorbital fullness |
Puffiness around eye
|
0000629 |
Preaxial |
0100258 | |
Radial deviation of the 3rd finger |
Inward turned middle finger
|
0009462 |
Recurrent corneal erosions |
Recurrent breakdown of clear protective layer of eye
|
0000495 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Small thenar eminence | 0001245 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] |
0000217 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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.
Where to Start
- Genetics Home Reference contains information on Lacrimo-auriculo-dento-digital syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Lacrimo-auriculo-dento-digital syndrome. Click on the link to view a sample search on this topic.