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ORPHA:1824

Lowry-Wood syndrome

medium confidenceDisorder

Also known as: Epiphyseal dysplasia-microcephaly-nystagmus syndrome

Publications

316

71.9th percentile

Trials

1

Interventional, condition-specific

Researchers

500

Distinct authors in sample

Gene link

RNU4ATAC

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterized by the association of epiphyseal , short stature, microcephaly and, in the first reported cases, nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be .

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 (4)

LWS · Lowry Wood syndrome · epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy · epiphyseal dysplasia-microcephaly-nystagmus 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Limited — RNU4ATAC

  2. LiteraturePresent

    316 matched papers (249 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Platyspondyly; Intellectual disability; Joint stiffness) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 RNU4ATAC.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0009191

  • Platyspondyly
  • Intellectual disability
  • Joint stiffness
  • Patellar dislocation
  • Elbow dislocation

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

316

316 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.

316 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).

249 in the last 10 years · medium confidence · 71.9th percentile (publications denominator)

Phrase hits: 62 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

500

Distinct author names in 62 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kanadia RN9 papers · 2022

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT, 06269, USA. Rahul.kanadia@uconn.edu.

    Papers in Europe PMC
  2. 02
    Olthof AM6 papers · 2022

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT, 06269, USA.

    Papers in Europe PMC
  3. 03
    Bernstein JA4 papers · 2026

    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

    Papers in Europe PMC
  4. 04
    Campeau PM4 papers · 2021

    Divisions of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada. p.campeau@umontreal.ca.

    Papers in Europe PMC
  5. 05
    Frilander MJ4 papers · 2026

    Institute of Biotechnology, P.O. Box 56, Viikinkaari 5, University of Helsinki, FI-00014 Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Magnani C4 papers · 2021

    Department of Pediatrics, University Hospital, Parma, Italy. cmagnani@unipr.it

    Papers in Europe PMC
  7. 07
    Wheeler MT4 papers · 2026

    Department of Medicine, Stanford University, Stanford, CA, USA.

    Papers in Europe PMC
  8. 08
    White AK4 papers · 2022

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT 06269, USA.

    Papers in Europe PMC
  9. 09
    Aquino GS3 papers · 2021

    Physiology and Neurobiology Department, University of Connecticut, Storrs, CT 06269, USA.

    Papers in Europe PMC
  10. 10
    Baumgartner M3 papers · 2021

    Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 Lowry-Wood 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.

("Lowry-Wood syndrome" OR "Epiphyseal dysplasia-microcephaly-nystagmus syndrome" OR "Lowry Wood syndrome" OR "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy") OR ("RNU4ATAC" OR "RNU4ATAC syndrome" OR "RNU4ATAC-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Lowry-Wood syndrome" OR "Epiphyseal dysplasia-microcephaly-nystagmus syndrome" OR "Lowry Wood syndrome" OR "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 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

Synonyms dropped by stoplist: LWS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:14:51.102Z