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ORPHA:2332

KBG syndrome

low confidenceDisorder

Also known as: ANKRD11-related disorder · Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome

Publications

1,470

Trials

2

Interventional, condition-specific

Researchers

1,609

Distinct authors in sample

Gene link

ANKRD11

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, and behavioral abnormalities.

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)

short stature-facial and skeletal anomalies-intellectual disability-macrodontia 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ANKRD11

  2. LiteraturePresent

    1,470 matched papers (1,210 in last 10 years) Source

  3. Phenotype characterisedPresent

    95 HPO annotations (e.g. Macrotia; Prominent nasal bridge; Underdeveloped nasal alae) 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 trialPresent

    2 matched on ClinicalTrials.gov (2 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?

Yes — we know a specific gene responsible (ANKRD11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

95

Associated phenotypes · MONDO:0007846

  • Macrotia
  • Prominent nasal bridge
  • Underdeveloped nasal alae
  • Anteverted nares
  • Webbed neck

Showing 5 of 95 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,470

1,470 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,470 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).

1,210 in the last 10 years · low confidence

Phrase hits: 497 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,609

Distinct author names in 200 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
    Low KJ14 papers · 2026

    Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.

    Papers in Europe PMC
  2. 02
    Ockeloen CW14 papers · 2026

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Gnazzo M12 papers · 2024

    Laboratory of Medical Genetics, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Lyon GJ10 papers · 2026

    Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA. gholsonjlyon@gmail.com.

    Papers in Europe PMC
  5. 05
    Voronova A10 papers · 2024

    Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

    Papers in Europe PMC
  6. 06
    Bayat A9 papers · 2026

    tina.duelund.hjortshoej@regionh.dk.

    Papers in Europe PMC
  7. 07
    Li X9 papers · 2026

    Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.

    Papers in Europe PMC
  8. 08
    Guo L8 papers · 2025

    Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.

    Papers in Europe PMC
  9. 09
    Kleefstra T8 papers · 2023

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Marchi E8 papers · 2025

    Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

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

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 1 · 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).

Uncertain / not reviewed (1)

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 KBG 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.

("KBG syndrome" OR "ANKRD11-related disorder" OR "Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome") OR ("ANKRD11" OR "ANKRD11 syndrome" OR "ANKRD11-related" OR "KBG-related")

Run this search on Europe PMC

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

"KBG syndrome" OR "ANKRD11-related disorder" OR "Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"

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: 2 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
  • Publication count (1470) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T19:53:39.699Z