ORPHA:1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Also known as: Beare-Stevenson cutis gyrata syndrome
Publications
152
59.8th percentile
Trials
0
Interventional, condition-specific
Researchers
991
Distinct authors in sample
Gene link
FGFR2
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007412
- MeSH:C565129
- OMIM:123790
- UMLS:C1852406
- NCIT:C123813
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — FGFR2
- LiteraturePresent
152 matched papers (69 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 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)
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?
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=5449) is 41.
152 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).
69 in the last 10 years · high confidence · 59.8th percentile (publications denominator)
Phrase hits: 152 · MeSH hits: 0
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.
- 01Jabs 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 - 02Cohen MM Jr5 papers · 2009
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Papers in Europe PMC - 03Bates CM4 papers · 2016
Rangos Research Center, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. batescm@upmc.edu
Papers in Europe PMC - 04Muenke M4 papers · 2014
Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. muenke@mail.med.upenn.edu
Papers in Europe PMC - 05Roscioli T4 papers · 2022
Queensland Clinical Genetics Service, Herston Hospitals Campus, Brisbane, Queensland, Australia. rosciolit@hotmail.com
Papers in Europe PMC - 06Wang 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 - 07Golabi M3 papers · 2009Papers in Europe PMC
- 08McDonald-McGinn DM3 papers · 2015Papers in Europe PMC
- 09Miwa T3 papers · 2026
Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 10Richtsmeier 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 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.
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
- NCT07080528·ENROLLING BY INVITATION·Measuring of the Duration of Action of Different Doses of Rocuronium-induced Neuromuscular Block in Infants During Surgical Treatment of Craniosynostosis
Conditions: Neuromuscular Blocking Agents · Residual Neuromuscular Block · Neuromuscular Blockade Monitoring·Matched via name phrase
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.
"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" OR "Beare-Stevenson cutis gyrata syndrome"
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