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Disease Profile

Lacrimo-auriculo-dento-digital syndrome

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

LADD syndrome; Levy Hollister syndrome; Lacrimoauriculodento-digital syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2363

Definition
Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.

Visit the Orphanet disease page for more resources.

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 syndactyly
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
Autosomal dominant inheritance
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 stem cell deficiency
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 duplication of thumb phalanx
Partial duplication of the thumb bones
0009944
Periorbital fullness
Puffiness around eye
0000629
Preaxial polydactyly
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.