ORPHA:513456
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Also known as: Skraban-Deardorff syndrome
Publications
441
78.9th percentile
Trials
0
Interventional, condition-specific
Researchers
458
Distinct authors in sample
Gene link
WDR26
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by global , , , abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.
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:0054636
- OMIM:617616
- UMLS:C4539927
Additional Mondo synonyms (1)
WDR26-Related Disorder
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.
- Gene identifiedPresent
Definitive — WDR26
- LiteraturePresent
441 matched papers (351 in last 10 years) Source
- Phenotype characterisedPresent
125 HPO annotations (e.g. Full cheeks; Everted upper lip vermilion; Micrognathia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (WDR26).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
125
Associated phenotypes · MONDO:0054636
- Full cheeks
- Everted upper lip vermilion
- Micrognathia
- Absent cupid's bow
- Brain imaging abnormality
Showing 5 of 125 — 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?
441
441 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=3967) is 59.
441 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).
351 in the last 10 years · medium confidence · 78.9th percentile (publications denominator)
Phrase hits: 44 · MeSH hits: 0
Who's working on it?
458
Distinct author names in 44 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.
- 01Addington J3 papers · 2024
Department of Psychiatry, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
Papers in Europe PMC - 02Bearden CE3 papers · 2024
Departments of Psychiatry and Biobehavioral Sciences & Psychology, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
Papers in Europe PMC - 03Cadenhead KS3 papers · 2024
Department of Psychiatry, University of California, San Diego, California, USA.
Papers in Europe PMC - 04Cornblatt BA3 papers · 2024
Feinstein Institute for Medical Research, Manhasset, New York, USA.
Papers in Europe PMC - 05
- 06Mathalon DH3 papers · 2024
Department of Psychiatry and Behavioral Sciences and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.
Papers in Europe PMC - 07McGlashan TH3 papers · 2024
Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.
Papers in Europe PMC - 08
- 09Perkins DO3 papers · 2024
Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 10Woods SW3 papers · 2024
Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.
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.
medium 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 2026-07-30
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).
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 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome — 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.
("Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome" OR "Skraban-Deardorff syndrome" OR "WDR26-Related Disorder") OR ("WDR26" OR "WDR26 syndrome" OR "WDR26-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome" OR "Skraban-Deardorff syndrome" OR "WDR26-Related Disorder"
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 (441) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T17:58:12.695Z