ORPHA:513456
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Also known as: Skraban-Deardorff syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
44
50.5th percentile
Trials
0
Interventional, condition-specific
Researchers
458
Distinct authors in sample
Gene link
WDR26
Definitive
Readiness
2/6
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.”
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 — WDR26
- LiteraturePresent
44 matched papers (42 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 (WDR26).
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?
44
44 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.
44 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).
42 in the last 10 years · high confidence · 50.5th 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 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.
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
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.
"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome" OR "Skraban-Deardorff syndrome" OR "WDR26-Related Disorder"
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" OR "WDR26"
Recall-expansion terms: WDR26
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
Ingested 2026-07-27T17:58:12.695Z