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ORPHA:1299

Branchioskeletogenital syndrome

low confidenceDisorder

Also known as: BSG syndrome · Elsahy-Waters syndrome

Publications

3,408

Trials

0

Interventional, condition-specific

Researchers

1,096

Distinct authors in sample

Gene link

CDH11

Definitive

Readiness

3/6

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.

Orphanet entry

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — CDH11

  2. LiteraturePresent

    3,408 matched papers (2,487 in last 10 years) Source

  3. Phenotype characterisedPresent

    115 HPO annotations (e.g. Micropenis; Mandibular prognathia; Strabismus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (CDH11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

115

Associated phenotypes · MONDO:0008885

  • Micropenis
  • Mandibular prognathia
  • Strabismus
  • Carious teeth
  • Penoscrotal hypospadias

Showing 5 of 115 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

3,408

3,408 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.

3,408 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).

2,487 in the last 10 years · low confidence

Phrase hits: 209 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Zhang X5 papers · 2025

    Pediatric Intensive Care Unit, Department of Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  2. 02
    Perkins JA4 papers · 2018

    Division of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.

    Papers in Europe PMC
  3. 03
    Heyd R3 papers · 2015

    Department of Radiotherapy, Offenbach Hospital, Offenbach, Germany. reiniheyd@aol.com

    Papers in Europe PMC
  4. 04
    Liu Y3 papers · 2023

    Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  5. 05
    Zhang Y3 papers · 2025

    Division of Oncology, Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  6. 06
    Ahn Y2 papers · 2024

    HuNBiome Co. Ltd., Seoul, Korea.

    Papers in Europe PMC
  7. 07
    Balakrishnan K2 papers · 2014

    University of Washington, Department of Otolaryngology/Head and Neck Surgery, Seattle, WA, USA.

    Papers in Europe PMC
  8. 08
    Bonilla Gonzalez C2 papers · 2021

    Clinical Oncology, National Cancer Institute, Bogotà, Colombia.

    Papers in Europe PMC
  9. 09
    Brancati F2 papers · 2021

    Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

    Papers in Europe PMC
  10. 10
    Castori 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 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).

Uncertain / not reviewed (3)

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 Branchioskeletogenital 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.

("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" OR "CDH11 syndrome" OR "CDH11-related")

Run this search on Europe PMC

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"

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: 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
  • Publication count (3408) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:56:31.467Z