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ORPHA:921

Abruzzo-Erickson syndrome

low confidenceDisorder

Also known as: CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome · Cleft palate-coloboma-hearing loss syndrome

Publications

898

Trials

0

Interventional, condition-specific

Researchers

1,592

Distinct authors in sample

Gene link

TBX22

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

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 (2)

ABERS · cleft palate-coloboma-deafness 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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Limited — TBX22

  2. LiteraturePresent

    898 matched papers (550 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Cleft palate; Radioulnar synostosis; Short stature) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Possibly — only limited evidence so far for TBX22.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0010554

  • Cleft palate
  • Radioulnar synostosis
  • Short stature
  • Coronal hypospadias
  • Ulnar deviation of finger

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

898

898 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.

898 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).

550 in the last 10 years · low confidence

Phrase hits: 323 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,592

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
    Abers MS37 papers · 2026

    Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  2. 02
    Lionakis MS15 papers · 2024

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892, USA. Electronic address: lionakism@niaid.nih.gov.

    Papers in Europe PMC
  3. 03
    Musher DM11 papers · 2019

    From the Department of Medicine, Baylor College of Medicine and Medical Care Line, Infectious Diseases Section, Michael E. DeBakey Veterans Affairs Medical Center, Houston, TX, USAFrom the Department of Medicine, Baylor College of Medicine and Medical Care Line, Infectious Diseases Section, Michael E. DeBakey Veterans Affairs Medical Center, Houston, TX, USA.

    Papers in Europe PMC
  4. 04
    Abers M9 papers · 2026

    Baylor College of Medicine, Houston, TX

    Papers in Europe PMC
  5. 05
    Abers GA8 papers · 2019

    Department of Earth Sciences, Boston University, Boston, Massachusetts 02215, USA. abers@bu.edu

    Papers in Europe PMC
  6. 06
    Holland SM8 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) MD Bethesda USA.

    Papers in Europe PMC
  7. 07
    Rosen LB6 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) MD Bethesda USA.

    Papers in Europe PMC
  8. 08
    Zhang Y6 papers · 2025

    Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Bastard P5 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.

    Papers in Europe PMC
  10. 10
    Casanova JL5 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.

    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 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.

low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Abruzzo-Erickson 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.

("Abruzzo-Erickson syndrome" OR "CHARGE-like syndrome" OR "Cleft palate-coloboma-deafness syndrome" OR "Cleft palate-coloboma-hearing loss syndrome" OR "ABERS") OR ("TBX22" OR "TBX22 syndrome" OR "TBX22-related")

Run this search on Europe PMC

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

"Abruzzo-Erickson syndrome" OR "CHARGE-like syndrome" OR "Cleft palate-coloboma-deafness syndrome" OR "Cleft palate-coloboma-hearing loss syndrome" OR "ABERS"

Study-type breakdown: 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (898) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:55:36.682Z