ORPHA:3469
XK aprosencephaly syndrome
Also known as: Garcia-Lurie syndrome · XK syndrome · XK-aprosencephaly
Publications
72
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
483
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic type of cerebral characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, /absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an mode of inheritance.
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:0008811
- MeSH:C536767
- OMIM:207770
- UMLS:C0795952
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
72 matched papers (36 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?
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?
72
72 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.
72 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).
36 in the last 10 years · high confidence · 47.5th percentile (publications denominator)
Phrase hits: 72 · MeSH hits: 0
Who's working on it?
483
Distinct author names in 72 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.
- 01Danek A7 papers · 2026
Neurologische Klinik und Poliklinik, LMU Klinikum, LMU München, Munich, Germany.
Papers in Europe PMC - 02Peikert K7 papers · 2026
Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, Rostock University Medical Center, University of Rostock, Germany.
Papers in Europe PMC - 03Walker RH5 papers · 2026
Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.
Papers in Europe PMC - 04Hermann A4 papers · 2026
Department of Neurology, Translational Neurodegeneration Section "Albrecht Kossel", University Medical Center Rostock, University of Rostock, Rostock, Germany.
Papers in Europe PMC - 05Kaestner L4 papers · 2026
Theoretical Medicine and Biosciences, Saarland University, Campus University Hospital, 66421 Homburg/Saar, Germany.
Papers in Europe PMC - 06Jung HH3 papers · 2025
Department of Neurology, University and University Hospital Zürich, Zürich, Switzerland.
Papers in Europe PMC - 07Li J3 papers · 2024
Department of Pediatrics, China Academy of Chinese Medical Sciences, Guang'anmen Hospital, Beijing, China.
Papers in Europe PMC - 08Lurie IW3 papers · 1997
Department of Epidemiology and Preventive Medicine, University of Maryland at Baltimore, School of Medicine 21201-1703, USA.
Papers in Europe PMC - 09Biedermann T2 papers · 2022
Department of Dermatology and Allergy Biederstein, School of Medicine, Technical University of Munich, Munich, Germany.
Papers in Europe PMC - 10Cherstvoy ED2 papers · 1980Papers 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.
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.
"XK aprosencephaly syndrome" OR "Garcia-Lurie syndrome" OR "XK syndrome" OR "XK-aprosencephaly"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"XK aprosencephaly syndrome" OR "Garcia-Lurie syndrome" OR "XK syndrome" OR "XK-aprosencephaly"
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
Ingested 2026-07-26T23:17:50.548Z