ORPHA:1299
Branchioskeletogenital syndrome
Also known as: BSG syndrome · Elsahy-Waters syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
209
Trials
0
Interventional, condition-specific
Researchers
1,096
Distinct authors in sample
Gene link
CDH11
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Branchioskeletogenital syndrome is a rare multiple anomalies/ syndrome characterized by moderate , distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), dental anomalies (dentigerous cysts, radicular dentin and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
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.
Additional Mondo synonyms (6)
ELSAHY-Waters syndrome · ESWS · brachioskeletogenital syndrome · hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss · hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss · hypospadias-hypertelorism-coloboma and deafness 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.”
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 — CDH11
- LiteraturePresent
209 matched papers (91 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 (CDH11).
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?
209
209 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.
209 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).
91 in the last 10 years · low confidence
Phrase hits: 209 · MeSH hits: 0
Who's working on it?
1,096
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.
- 01Zhang X5 papers · 2025
Pediatric Intensive Care Unit, Department of Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 02Perkins JA4 papers · 2018
Division of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.
Papers in Europe PMC - 03Heyd R3 papers · 2015
Department of Radiotherapy, Offenbach Hospital, Offenbach, Germany. reiniheyd@aol.com
Papers in Europe PMC - 04Liu Y3 papers · 2023
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 05Zhang Y3 papers · 2025
Division of Oncology, Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 06
- 07Balakrishnan K2 papers · 2014
University of Washington, Department of Otolaryngology/Head and Neck Surgery, Seattle, WA, USA.
Papers in Europe PMC - 08Bonilla Gonzalez C2 papers · 2021
Clinical Oncology, National Cancer Institute, Bogotà, Colombia.
Papers in Europe PMC - 09Brancati F2 papers · 2021
Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Papers in Europe PMC - 10Castori M2 papers · 2018
Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
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.
low 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.
"Branchioskeletogenital syndrome" OR "BSG syndrome" OR "Elsahy-Waters syndrome" OR "brachioskeletogenital syndrome" OR "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" OR "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" OR "hypospadias-hypertelorism-coloboma and deafness syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Branchioskeletogenital syndrome" OR "BSG syndrome" OR "Elsahy-Waters syndrome" OR "brachioskeletogenital syndrome" OR "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" OR "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" OR "hypospadias-hypertelorism-coloboma and deafness syndrome" OR "CDH11"
Recall-expansion terms: CDH11
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
Synonyms dropped by stoplist: ESWS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "hypospadias-hypertelorism-coloboma and deafness syndrome" also appears on ORPHA:157788
Ingested 2026-07-26T16:56:31.467Z