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ORPHA:2363

Lacrimoauriculodentodigital syndrome

medium confidenceDisorder

Also known as: LADD syndrome · LARD syndrome · Lacrimoauriculoradiodental syndrome · Levy-Hollister syndrome

Publications

302

64.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,167

Distinct authors in sample

Gene link

FGFR2

Limited

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Limited — FGFR2

  2. LiteraturePresent

    302 matched papers (161 in last 10 years) Source

  3. Phenotype characterisedPresent

    142 HPO annotations (e.g. Abnormality of the eye; Abnormal dental enamel morphology; Low-set ears) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

142

Associated phenotypes · MONDO:0007872

  • Abnormality of the eye
  • Abnormal dental enamel morphology
  • Low-set ears
  • Conductive hearing impairment
  • Sensorineural hearing impairment

Showing 5 of 142 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

302 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

161 in the last 10 years · medium confidence · 64.6th percentile (publications denominator)

Phrase hits: 302 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bellusci 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
  2. 02
    Karolak 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
  3. 03
    Krakow D4 papers · 2023

    Department of Orthopaedic Surgery, University of California, Los Angeles, California. dkrakow@mednet.ucla.edu.

    Papers in Europe PMC
  4. 04
    Li Y4 papers · 2026

    Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.

    Papers in Europe PMC
  5. 05
    Zhang X4 papers · 2026

    Departments of Ophthalmology, Pathology and Cell Biology, Columbia University, New York, New York.

    Papers in Europe PMC
  6. 06
    Brumovska V3 papers · 2024

    Institute of Applied Physics, TU Wien, Vienna, Austria

    Papers in Europe PMC
  7. 07
    Chao 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
  8. 08
    Chen 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
  9. 09
    Cormier-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
  10. 10
    Gambin 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Lacrimoauriculodentodigital syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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