ORPHA:709
Peters plus syndrome
Also known as: Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome · Peters anomaly with short limb dwarfism
Query health: suspect — Only one of 3 strategies returned hits (phrase).
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.
Is anyone studying this?
249
249 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=183) is 38.
249 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
140 in the last 10 years · medium confidence · 73.5th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (B3GLCT).
GenCC classification: Definitive.
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.
- 01Haltiwanger RS14 papers · 2025
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Papers in Europe PMC - 02Semina EV13 papers · 2024
Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.
Papers in Europe PMC - 03Reis 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 - 04Berardinelli SJ6 papers · 2022
Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, 315 Riverbend Road, Athens, GA 30602, USA.
Papers in Europe PMC - 05Apte SS5 papers · 2020
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio.
Papers in Europe PMC - 06Holdener BC5 papers · 2021
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.
Papers in Europe PMC - 07Weh E5 papers · 2017
Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
Papers in Europe PMC - 08Edward 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 - 09Hennekam RC4 papers · 2008
Institute for Human Genetics, State University Amsterdam, The Netherlands.
Papers in Europe PMC - 10Vasudevan D4 papers · 2020
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, 11794-5215, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below 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"
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" OR "B3GLCT"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537617 OMIM:261540 UMLS:C0796012 NCIT:C123436
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 (249) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium