ORPHA:466943
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Also known as: DESSH · Desanto-Shinawi syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
74
61.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,305
Distinct authors in sample
Gene link
WAC
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic characterised by several features, , , , behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.
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:0018760
- UMLS:C4225239
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
Definitive — WAC
- LiteraturePresent
74 matched papers (74 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?
Yes — we know a specific gene responsible (WAC).
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?
74
74 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.
74 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).
74 in the last 10 years · high confidence · 61.2th percentile (publications denominator)
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
1,305
Distinct author names in 74 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.
- 01Aczel B7 papers · 2022
Institute of Psychology, ELTE Eötvös Loránd University, Budapest, Hungary.
Papers in Europe PMC - 02Arriaga P7 papers · 2022
CIS-IUL, Iscte-Instituto Universitário de Lisboa, Lisbon, Portugal.
Papers in Europe PMC - 03
- 04Arvanitis A7 papers · 2022
Department of Psychology, University of Crete, Rethymno, Greece.
Papers in Europe PMC - 05Barzykowski K7 papers · 2022
Institute of Psychology, Jagiellonian University, Krakow, Poland.
Papers in Europe PMC - 06Batres C7 papers · 2022
Department of Psychology, Franklin and Marshall College, Lancaster, PA, USA.
Papers in Europe PMC - 07Bavolar J7 papers · 2022
Department of Psychology, Faculty of Arts, Pavol Jozef Šafárik University in Košice, Košice, Slovakia.
Papers in Europe PMC - 08
- 09Findor A7 papers · 2022
Faculty of Social and Economic Sciences, Comenius University in Bratislava, Bratislava, Slovakia.
Papers in Europe PMC - 10Gill T7 papers · 2022
Lazaridis School of Business and Economics, Wilfrid Laurier University, Waterloo, Ontario, Canada.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
Recruiting or not-yet-recruiting
- NCT06807723·RECRUITING·Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Conditions: WAC · DeSanto-Shinawi Syndrome · DESSH · WAC SYNDROME·Matched via name phrase
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.
"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" OR "DESSH" OR "Desanto-Shinawi syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" OR "DESSH" OR "Desanto-Shinawi syndrome" OR "WAC"
Recall-expansion terms: WAC
Study-type breakdown: 0 interventional · 1 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
Ingested 2026-07-27T17:02:49.158Z