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ORPHA:1555

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

high confidenceDisorder

Also known as: Beare-Stevenson cutis gyrata syndrome

Publications

152

52.1th percentile

Trials

0

Interventional, condition-specific

Researchers

991

Distinct authors in sample

Gene link

FGFR2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant and are observed in most patients who survive infancy.

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.

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — FGFR2

  2. LiteraturePresent

    152 matched papers (69 in last 10 years) Source

  3. Phenotype characterisedPresent

    96 HPO annotations (e.g. Limited elbow extension; Downslanted palpebral fissures; Choanal stenosis) 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 trialPartial

    None under the specific name; 16 for broader category craniosynostosis

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 (FGFR2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

96

Associated phenotypes · MONDO:0007412

  • Limited elbow extension
  • Downslanted palpebral fissures
  • Choanal stenosis
  • Global developmental delay
  • Preauricular skin furrow

Showing 5 of 96 — 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?

152

152 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.

152 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).

69 in the last 10 years · high confidence · 52.1th percentile (publications denominator)

Phrase hits: 152 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

991

Distinct author names in 152 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
    Jabs EW7 papers · 2021

    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, U.S.A.

    Papers in Europe PMC
  2. 02
    Cohen MM Jr5 papers · 2009

    Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

    Papers in Europe PMC
  3. 03
    Bates CM4 papers · 2016

    Rangos Research Center, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. batescm@upmc.edu

    Papers in Europe PMC
  4. 04
    Muenke M4 papers · 2014

    Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. muenke@mail.med.upenn.edu

    Papers in Europe PMC
  5. 05
    Roscioli T4 papers · 2022

    Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia. rosciolit@hotmail.com

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

    Papers in Europe PMC
  7. 07
    Golabi M3 papers · 2009
    Papers in Europe PMC
  8. 08
    McDonald-McGinn DM3 papers · 2015
    Papers in Europe PMC
  9. 09
    Miwa T3 papers · 2026

    Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Richtsmeier JT3 papers · 2022

    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, 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). 16 trials are registered for craniosynostosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

16 interventional trials matched craniosynostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: craniosynostosis

16

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Cutis gyrata-acanthosis nigricans-craniosynostosis 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.

"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" OR "Beare-Stevenson cutis gyrata syndrome"

Run this search on Europe PMC

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

"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" OR "Beare-Stevenson cutis gyrata syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"craniosynostosis"

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 2026-07-26T17:43:01.975Z