RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:36

Acrocallosal syndrome

low confidenceSubtype of disorder

Also known as: ACS

Publications

1,404

Trials

0

Interventional, condition-specific

Researchers

1,259

Distinct authors in sample

Gene link

KIF7

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and .

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

ACLS · Schinzel acrocallosal syndrome · Schinzel syndrome 1 · acrocallosal syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — KIF7

  2. LiteraturePresent

    1,404 matched papers (854 in last 10 years) Source

  3. Phenotype characterisedPresent

    100 HPO annotations (e.g. Duplication of thumb phalanx; Preaxial foot polydactyly; Posteriorly rotated ears) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (KIF7).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

100

Associated phenotypes · MONDO:0008708

  • Duplication of thumb phalanx
  • Preaxial foot polydactyly
  • Posteriorly rotated ears
  • Preauricular skin tag
  • Inguinal hernia

Showing 5 of 100 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

1,404

1,404 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=3967) is 59.

1,404 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).

854 in the last 10 years · low confidence

Phrase hits: 362 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,259

Distinct author names in 200 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.

  1. 01
    Wang J7 papers · 2026

    Department of Biopharmaceutics, Zhejiang Provincial Engineering Research Center of New Technologies and Applications for Targeted Therapy of Major Diseases, College of Life Science and Medicine, Zhejiang Sci-Tech University, Hangzhou, China.

    Papers in Europe PMC
  2. 02
    Zhang Y7 papers · 2025

    College of First Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan, 250014, China.

    Papers in Europe PMC
  3. 03
    Subramanian R6 papers · 2026

    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: radhika@molbio.mgh.harvard.edu.

    Papers in Europe PMC
  4. 04
    Wang X6 papers · 2025

    College of Traditional Chinese Medicine, Shandong Second Medical University, Weifang, Shandong, 261053, China.

    Papers in Europe PMC
  5. 05
    Jiang J5 papers · 2025

    Department of Molecular Biology and Department of Pharmacology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, 75390, USA. Electronic address: jin.jiang@utsouthwestrn.edu.

    Papers in Europe PMC
  6. 06
    Liu Z5 papers · 2025

    Department of General Surgery, Affiliated Hospital of Youjiang Medical University for Nationalities, No. 18 Zhongshan 2nd Road, Baise, Guangxi, 533000, China.

    Papers in Europe PMC
  7. 07
    Zhang H5 papers · 2026

    Institute of Biomedical Sciences, 1331 Local Bio-Resources and Health Industry Collaborative Innovation Center of Shanxi Province, Key Laboratory of Biomedical Shanxi Province, Shanxi University, Taiyuan 030006, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Attié-Bitach T4 papers · 2019

    Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Sorbonne Paris Cité University, Imagine Institute, Paris, France.

    Papers in Europe PMC
  9. 09
    Chen J4 papers · 2026

    Biomedical Analysis Center, Department of Basic Medicine, Third Military Medical University (Army Medical University), Chongqing, 400038, PR China.

    Papers in Europe PMC
  10. 10
    He M4 papers · 2025

    Department of Physiology and Department of Biochemistry and Biophysics, Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, CA 94158, 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.

low 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.

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 2026-07-29

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 Acrocallosal syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Acrocallosal syndrome" OR "Schinzel acrocallosal syndrome" OR "Schinzel syndrome 1") OR ("KIF7" OR "KIF7 syndrome" OR "KIF7-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Acrocallosal syndrome" OR "Schinzel acrocallosal syndrome" OR "Schinzel syndrome 1"

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

Synonyms dropped by stoplist: ACS; ACLS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1404) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:11:02.357Z