ORPHA:90650
Otopalatodigital syndrome type 1
Also known as: OPD I syndrome · OPD syndrome 1 · Taybi syndrome
Publications
2,790
94.1th percentile
Trials
3
Interventional, condition-specific
Researchers
1,225
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal , mild , conductive hearing loss, and typical facial anomalies.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010704
- OMIM:311300
- UMLS:C0265251
- NCIT:C118845
Additional Mondo synonyms (6)
OPD 1 syndrome · OPD1 · oto-palato-digital syndrome type 1 · otopalatodigital syndrome, type 1 · otopalatodigital syndrome, type I · otopalatodigital syndrome, type I, X-linked dominant
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,790 matched papers (1,305 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 trialPresent
3 matched on ClinicalTrials.gov (1 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
2,790
2,790 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=5449) is 41.
2,790 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).
1,305 in the last 10 years · medium confidence · 94.1th percentile (publications denominator)
Phrase hits: 2,790 · MeSH hits: 0
Who's working on it?
1,225
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.
- 01Milani D7 papers · 2025
Child and Adolescent Neuropsychiatry Service (UONPIA), Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 02Bapat S4 papers · 2026
National Centre for Cell Science, NCCS Complex, Pune University Complex, Ganeshkhind, Pune, Maharashtra 411007, India.
Papers in Europe PMC - 03Dalabehera S4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 04Harris J4 papers · 2026
Kennedy Krieger Institute, Baltimore, MD, USA. harrisjac@kennedykrieger.org.
Papers in Europe PMC - 05
- 06Prasher B4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 07Ramalingam S4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC - 08Sachidanandan C4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India. Electronic address: chetana@igib.res.in.
Papers in Europe PMC - 09Sharma A4 papers · 2025
From the Departments of Dermatology, 158 Base Hospital, Bagdogra, West Bengal, India E-mail: drpreemasinha@gmail.com.
Papers in Europe PMC - 10Singh D4 papers · 2026
CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi 110025, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
medium confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
Broader category: otopalatodigital syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Otopalatodigital syndrome type 1" OR "OPD I syndrome" OR "OPD syndrome 1" OR "Taybi syndrome" OR "OPD 1 syndrome" OR "oto-palato-digital syndrome type 1" OR "otopalatodigital syndrome, type 1" OR "otopalatodigital syndrome, type I" OR "otopalatodigital syndrome, type I, X-linked dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Otopalatodigital syndrome type 1" OR "OPD I syndrome" OR "OPD syndrome 1" OR "Taybi syndrome" OR "OPD 1 syndrome" OR "oto-palato-digital syndrome type 1" OR "otopalatodigital syndrome, type 1" OR "otopalatodigital syndrome, type I" OR "otopalatodigital syndrome, type I, X-linked dominant"
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: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"otopalatodigital syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OPD1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:53:09.803Z