ORPHA:324601
X-linked cleft palate and ankyloglossia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
620
76.5th percentile
Trials
0
Interventional, condition-specific
Researchers
459
Distinct authors in sample
Gene link
TBX22
Definitive
Readiness
5/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010560
- MeSH:C536426
- OMIM:303400
- UMLS:C1844830
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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TBX22
- LiteraturePresent
620 matched papers (310 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Cleft palate; Bifid uvula; Ankyloglossia) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 84 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)
3
Associated phenotypes · MONDO:0010560
- Cleft palate
- Bifid uvula
- Ankyloglossia
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Tbx22tm1.1Sta/Y [background:] involves: 129/Sv * CD-1·MGI:4361326·Mus musculus
- Tbx22tm1.1Sta/Tbx22tm1.1Sta [background:] involves: 129 * CD-1·MGI:4361283·Mus musculus
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?
620
620 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.
620 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).
310 in the last 10 years · high confidence · 76.5th percentile (publications denominator)
Phrase hits: 105 · MeSH hits: 0
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.
- 01Moore GE14 papers · 2013
Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's Maternity Hospital, England.
Papers in Europe PMC - 02Stanier P14 papers · 2013
Action Research Laboratory for the Molecular Biology of Fetal Development, Queen Charlotte's Hospital, London, England.
Papers in Europe PMC - 03Arnason A9 papers · 2001Papers in Europe PMC
- 04Murray JC8 papers · 2012Papers in Europe PMC
- 05Bjornsson A7 papers · 2001Papers in Europe PMC
- 06Pauws E6 papers · 2013
UCL Institute of Child Health, 30 Guilford Street, London, UK.
Papers in Europe PMC - 07Williamson R6 papers · 1993
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, Norfolk, UK.
Papers in Europe PMC - 08Braybrook 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 - 09Jugessur A5 papers · 2017
Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway. astanand.jugessur@fhi.no
Papers in Europe PMC - 10Doudney K4 papers · 2007Papers 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). 84 trials are registered for cleft palate, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 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.
high 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.
84 interventional trials matched cleft palate, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: cleft palate
84
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
- NCT06889181·NOT YET RECRUITING·Role of Plasma Rich Growth Factor in Repair Primary Cleft Palate
Conditions: Cleft Palate · Plasma Rich in Growth Factors·Matched via name phrase
- NCT07514091·NOT YET RECRUITING·MRI Assessment of Velopharyngeal Anatomy After Modified Furlow-Buccinator Flap in Late Primary Palate Repair
Conditions: Cleft Palate · Cleft Palate, Unilateral, Complete · Cleft Lip, Cleft Alveolus and Cleft Palate · Cleft Palate Repair·Matched via name phrase
- NCT06505330·RECRUITING·Respiratory Tract Microbiome and Probiotics in Children With Cleft Palate
Conditions: Otitis Media in Children · Cleft Palate Children·Matched via name phrase
- NCT06381713·RECRUITING·Effect and Cost-utility of of High Intensity vs. Low Intensity Speech Intervention in Children With Cleft Palate
Conditions: Cleft Palate Children · Speech Therapy · Speech Disorders in Children · Cleft Lip and Palate·Matched via name phrase
- NCT07219901·NOT YET RECRUITING·Early Intervention in Infants With Unrepaired Cleft Palate: Language, Palatal Function, and Articulation.
Conditions: Cleft Lip and Cleft Palate · Cleft Lip Palate · Cleft Lip and/or Palate · Cleft Palate·Matched via name phrase
- NCT06143254·RECRUITING·Effect of Infant Sign Training on Speech-language Development
Conditions: Cleft Palate Children·Matched via name phrase
- NCT06962306·RECRUITING·Optimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery
Conditions: Cleft Palate · Pain · Postoperative Care · Perioperative Care·Matched via name phrase
- NCT05492266·RECRUITING·Expiratory Muscle Strength Training for Hypernasal Speech in Children
Conditions: Velopharyngeal Insufficiency · Velopharyngeal Incompetence Due to Cleft Palate · Inadequate Velopharyngeal Closure · Palatopharyngeal Incompetence·Matched via name phrase
- NCT07752849·RECRUITING·Palatoplasty Techniques Using PRF and Gentamicin-Loaded PRF in Cleft Palate
Conditions: Cleft Palate · Unilateral Cleft Palate · Bilateral Cleft Palate · Complete Cleft Palat·Matched via name phrase
- NCT06589453·NOT YET RECRUITING·Evaluation of Nasal Elevator Versus Grayson's Nasal Stent with D-NAM Appliance on Nasolabial Esthetics in Bilateral Cleft Lip and Palate Infants
Conditions: Cleft Lip and Cleft Palate·Matched via name phrase
- NCT06105099·RECRUITING·Effect of Performance-specific Cleft Speech Intervention and Long-term Learning in Children With a Cleft Palate
Conditions: Cleft Palate Children · Speech Disorders in Children · Cleft Lip and Palate · Speech Therapy·Matched via name phrase
- NCT06338319·ENROLLING BY INVITATION·Book Sharing for Toddlers With Clefts
Conditions: Cleft Palate · Cleft Lip and Palate·Matched via name phrase
- NCT07434375·NOT YET RECRUITING·Speech Intervention Via Telepractice for Children With Repaired Cleft Palate
Conditions: Cleft Palate Children · Speech Sound Disorder·Matched via name phrase
- NCT04928352·RECRUITING·Nebulized Bupivacaine Analgesia for Cleft Palate Repair
Conditions: Cleft Palate·Matched via name phrase
- NCT06072495·RECRUITING·Etiological Study of Persistent Velopharyngeal Insufficiency in Children With Operated Velopalatine Cleft by Analysis of Velopharyngeal Motor Skills in Static and Dynamic MRI
Conditions: Velopharyngeal Insufficiency · Real Time MRI · Cleft Palate·Matched via name phrase
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 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-30
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 (22)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Expired·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518989-27-01·Cancelled·Treating Leg Symptoms in Women with X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance
skipped — LLM skipped (--skip-llm)
- ctis·2023-509390-23-00·Authorised, ongoing·A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients with X-linked Hypophosphatemia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-514466-38-00·Expired·A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512695-34-00·Cancelled·A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513124-41-00·Cancelled·Influencing Progression of Airway Disease in Primary Antibody Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-512790-27-00·Cancelled·A phase I/II, non randomized, monocentric open-label study of autologous CD34+ cells transduced with the G1XCGD lentiviral vector in patients with X-linked chronic granulomatous disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511411-25-00·Expired·Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene
skipped — LLM skipped (--skip-llm)
- ctis·2024-513774-21-00·Expired·AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-102 TREATMENT ON DISEASE PROGRESSION PRIOR TO HUMAN STEM CELL TRANSPLANT (HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512637-32-00·Expired·ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients
skipped — LLM skipped (--skip-llm)
- ctis·2023-506735-15-00·Cancelled·MT-7117-A-302 Study: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents with Erythropoietic Protoporphyria or X-Linked Protoporphyria
skipped — LLM skipped (--skip-llm)
- ctis·2023-504534-21-00·Cancelled·Open-label extension study with Tadekinig alfa (r-hIL-18BP) to monitor safety and tolerability in patients with IL-18 driven monogenic autoinflammatory conditions: NLRC4 mutation and XIAP deficiency
skipped — LLM skipped (--skip-llm)
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 X-linked cleft palate and ankyloglossia — check Associations / patient organisations on that page.
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 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") OR (MESH:"Cleft palate X-linked") OR ("TBX22" OR "TBX22 syndrome" OR "TBX22-related")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"
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; 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