ORPHA:921
Abruzzo-Erickson syndrome
Also known as: CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome · Cleft palate-coloboma-hearing loss syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
323
82.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,592
Distinct authors in sample
Gene link
TBX22
Limited
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010554
- MeSH:C535559
- OMIM:302905
- UMLS:C1844862
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.”
2/6 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.
- Gene identifiedPresent
Limited — TBX22
- LiteraturePresent
323 matched papers (256 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
323
323 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.
323 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).
256 in the last 10 years · medium confidence · 82.2th percentile (publications denominator)
Phrase hits: 323 · MeSH hits: 0
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.
- 01Abers MS37 papers · 2026
Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 02Lionakis 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 - 03Musher 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 - 04
- 05Abers GA8 papers · 2019
Department of Earth Sciences, Boston University, Boston, Massachusetts 02215, USA. abers@bu.edu
Papers in Europe PMC - 06Holland 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 - 07Rosen 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 - 08Zhang 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 - 09Bastard 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 - 10Casanova 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 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.
medium 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.
See who's working on it — 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 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"
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" OR "TBX22"
Recall-expansion terms: TBX22
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 (323) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T15:55:36.682Z