ORPHA:2363
Lacrimoauriculodentodigital syndrome
Also known as: LADD syndrome · LARD syndrome · Lacrimoauriculoradiodental syndrome · Levy-Hollister syndrome
Publications
302
75.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,167
Distinct authors in sample
Gene link
FGFR2
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies/ syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel . The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007872
- MeSH:C538132
- UMLS:C0265269
Additional Mondo synonyms (6)
LACRIMOAURICULODENTODIGITAL syndrome · Lacrimo-auriculo-dento-digital syndrome · Lacrimoauriculodento-digital syndrome · Levy Hollister syndrome · lacrimoauriculodentodigital syndrome · lard syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — FGFR2
- LiteraturePresent
302 matched papers (161 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for FGFR2.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
302
302 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
302 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
161 in the last 10 years · medium confidence · 75.2th percentile (publications denominator)
Phrase hits: 302 · MeSH hits: 0
Who's working on it?
1,167
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bellusci S5 papers · 2023
Universities of Giessen and Marburg Lung Center (UGMLC), Excellence Cluster Cardio-Pulmonary System (ECCPS), Member of the German Center for Lung Research (DZL), Department of Internal Medicine II, Aulweg 130, 35392, Giessen, Germany.
Papers in Europe PMC - 02Karolak JA5 papers · 2024
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781 Poznan, Poland.
Papers in Europe PMC - 03Krakow D4 papers · 2023
Department of Orthopaedic Surgery, University of California, Los Angeles, California. dkrakow@mednet.ucla.edu.
Papers in Europe PMC - 04Li Y4 papers · 2026
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Papers in Europe PMC - 05Zhang X4 papers · 2026
Departments of Ophthalmology, Pathology and Cell Biology, Columbia University, New York, New York.
Papers in Europe PMC - 06Brumovska V3 papers · 2024
Institute of Applied Physics, TU Wien, Vienna, Austria
Papers in Europe PMC - 07Chao CM3 papers · 2017
Universities of Giessen and Marburg Lung Center (UGMLC), Excellence Cluster Cardio-Pulmonary System (ECCPS), Member of the German Center for Lung Research (DZL), Department of Internal Medicine II, Aulweg 130, 35392, Giessen, Germany.
Papers in Europe PMC - 08Chen C3 papers · 2026
Laboratory of Interventional Pulmonology of Zhejiang Province, Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, China.
Papers in Europe PMC - 09Cormier-Daire V3 papers · 2023
Imagine Institute, Université de Paris, Clinical Genetics, INSERM UMR 1163, Necker Enfants Malades Hospital, 75015 Paris, France.
Papers in Europe PMC - 10Gambin T3 papers · 2021
Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland; Institute of Computer Science, Warsaw University of Technology, 00-665 Warsaw, Poland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Lacrimoauriculodentodigital syndrome" OR "LADD syndrome" OR "LARD syndrome" OR "Lacrimoauriculoradiodental syndrome" OR "Levy-Hollister syndrome" OR "Lacrimo-auriculo-dento-digital syndrome" OR "Lacrimoauriculodento-digital syndrome" OR "Levy Hollister syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lacrimoauriculodentodigital syndrome" OR "LADD syndrome" OR "LARD syndrome" OR "Lacrimoauriculoradiodental syndrome" OR "Levy-Hollister syndrome" OR "Lacrimo-auriculo-dento-digital syndrome" OR "Lacrimoauriculodento-digital syndrome" OR "Levy Hollister syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:57:34.579Z