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ORPHA:324601

X-linked cleft palate and ankyloglossia

high confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

105

40.6th percentile

Trials

0

Interventional, condition-specific

Researchers

459

Distinct authors in sample

Gene link

TBX22

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

cleft palate with ankyloglossia · cleft palate with or without ankyloglossia, X-linked

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — TBX22

  2. LiteraturePresent

    105 matched papers (25 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 81 for broader category cleft palate

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 (TBX22).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

105

105 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=5449) is 41.

105 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)

Phrase hits: 105 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

459

Distinct author names in 105 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
    Moore GE14 papers · 2013

    Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's Maternity Hospital, England.

    Papers in Europe PMC
  2. 02
    Stanier P14 papers · 2013

    Action Research Laboratory for the Molecular Biology of Fetal Development, Queen Charlotte's Hospital, London, England.

    Papers in Europe PMC
  3. 03
    Arnason A9 papers · 2001
    Papers in Europe PMC
  4. 04
    Murray JC8 papers · 2012
    Papers in Europe PMC
  5. 05
    Bjornsson A7 papers · 2001
    Papers in Europe PMC
  6. 06
    Pauws E6 papers · 2013

    UCL Institute of Child Health, 30 Guilford Street, London, UK.

    Papers in Europe PMC
  7. 07
    Williamson R6 papers · 1993

    Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, Norfolk, UK.

    Papers in Europe PMC
  8. 08
    Braybrook C5 papers · 2004

    Institute of Reproductive and Developmental Biology, Imperial College Faculty of Medicine-Hammersmith Campus, Du Cane Road, London W12 ONN, UK.

    Papers in Europe PMC
  9. 09
    Jugessur A5 papers · 2017

    Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway. astanand.jugessur@fhi.no

    Papers in Europe PMC
  10. 10
    Doudney K4 papers · 2007
    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). 81 trials are registered for cleft palate, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

81 interventional trials matched cleft palate, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cleft palate

81

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"X-linked cleft palate and ankyloglossia" OR "cleft palate with ankyloglossia" OR "cleft palate with or without ankyloglossia, X-linked"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cleft palate X-linked

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

"X-linked cleft palate and ankyloglossia" OR "cleft palate with ankyloglossia" OR "cleft palate with or without ankyloglossia, X-linked" OR "Cleft palate X-linked" OR "TBX22"

Recall-expansion terms: TBX22

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

Parent-category trials query:

"cleft palate"

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

Ingested 2026-07-27T13:38:34.090Z