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ORPHA:709

Peters plus syndrome

medium confidenceDisorder

Also known as: Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome · Peters anomaly with short limb dwarfism

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

422

75.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,085

Distinct authors in sample

Gene link

B3GLCT

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Peters plus syndrome is an recessively inherited syndromic developmental defect of the eye characterized by a variable including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe /. Other associated abnormalities reported in some patients include heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and hypothyroidism.

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 (1)

Peters-plus 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

    Definitive — B3GLCT

  2. LiteraturePresent

    422 matched papers (298 in last 10 years) Source

  3. Phenotype characterisedPresent

    180 HPO annotations (e.g. Abnormal cardiac septum morphology; Toe syndactyly; Multicystic kidney dysplasia) Source

  4. Animal modelPresent

    2 genotype models (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?

Yes — we know a specific gene responsible (B3GLCT).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

180

Associated phenotypes · MONDO:0009856

  • Abnormal cardiac septum morphology
  • Toe syndactyly
  • Multicystic kidney dysplasia
  • Renal duplication
  • Visual impairment

Showing 5 of 180 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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?

422

422 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.

422 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).

298 in the last 10 years · medium confidence · 75.6th percentile (publications denominator)

Phrase hits: 249 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,085

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
    Haltiwanger RS14 papers · 2025

    Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.

    Papers in Europe PMC
  2. 02
    Semina EV13 papers · 2024

    Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  3. 03
    Reis LM12 papers · 2024

    Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53226-0509, USA.

    Papers in Europe PMC
  4. 04
    Berardinelli SJ6 papers · 2022

    Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, USA.

    Papers in Europe PMC
  5. 05
    Apte SS5 papers · 2020

    Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio.

    Papers in Europe PMC
  6. 06
    Holdener BC5 papers · 2021

    Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.

    Papers in Europe PMC
  7. 07
    Weh E5 papers · 2017

    Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

    Papers in Europe PMC
  8. 08
    Edward DP4 papers · 2026

    King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia ; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.

    Papers in Europe PMC
  9. 09
    Hennekam RC4 papers · 2008

    Institute for Human Genetics, State University Amsterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Vasudevan D4 papers · 2020

    Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794-5215, USA.

    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 9 September 2026 · last trial check 9 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 1 · fetched 2026-07-27

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 Peters plus 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.

("Peters plus syndrome" OR "Krause-Kivlin syndrome" OR "Krause-van Schooneveld-Kivlin syndrome" OR "Peters anomaly with short limb dwarfism" OR "Peters-plus syndrome") OR (MESH:"Krause-Kivlin syndrome") OR ("B3GLCT" OR "B3GLCT syndrome" OR "B3GLCT-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Krause-Kivlin syndrome

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

"Peters plus syndrome" OR "Krause-Kivlin syndrome" OR "Krause-van Schooneveld-Kivlin syndrome" OR "Peters anomaly with short limb dwarfism" OR "Peters-plus syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (422) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T01:55:40.246Z