ORPHA:2462
Shprintzen-Goldberg syndrome
Also known as: Marfanoid craniosynostosis syndrome · SGS
Publications
10,810
Trials
0
Interventional, condition-specific
Researchers
1,437
Distinct authors in sample
Gene link
FBN1, SKI
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, 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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008426
- OMIM:182212
- UMLS:C1321551
- NCIT:C124840
Additional Mondo synonyms (1)
Shprintzen Goldberg 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.
- Gene identifiedPresent
Definitive — FBN1, SKI
- LiteraturePresent
10,810 matched papers (7,364 in last 10 years) Source
- Phenotype characterisedPresent
114 HPO annotations (e.g. Joint hypermobility; Hypertelorism; Micrognathia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (FBN1, SKI).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
114
Associated phenotypes · MONDO:0008426
- Joint hypermobility
- Hypertelorism
- Micrognathia
- High, narrow palate
- Hypoplasia of the maxilla
Showing 5 of 114 — 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?
10,810
10,810 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
10,810 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).
7,364 in the last 10 years · low confidence
Phrase hits: 381 · MeSH hits: 0
Who's working on it?
1,437
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.
- 01Loeys B10 papers · 2025
Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Papers in Europe PMC - 02Faivre L9 papers · 2025
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, 21000 Dijon, France.
Papers in Europe PMC - 03Van Laer L9 papers · 2024
Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Papers in Europe PMC - 04Boileau C6 papers · 2025
Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; LVTS, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.
Papers in Europe PMC - 05Dietz HC5 papers · 2021
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Papers in Europe PMC - 06Jondeau G5 papers · 2025
Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 75018, Paris, France.
Papers in Europe PMC - 07Arnaud P4 papers · 2025
Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; LVTS, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.
Papers in Europe PMC - 08Carmignac V4 papers · 2021
Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
Papers in Europe PMC - 09Cormier-Daire V4 papers · 2021
INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasias, Department of Genetics, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants Malades Hospital, Imagine Institute , Paris, France.
Papers in Europe PMC - 10Elefteriades JA4 papers · 2025
Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut, 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
- ctis·2024-515059-39-00·Authorised, ongoing·Evaluation of the Efficacy of Valsartan in Slowing Down Aortic Root Dilatation in Children and Young Adults with Marfan-type Heritable Thoracic Aortic Diseases – Valsar-TAD, a randomised, double-blind, placebo-controlled multicentre trial
skipped — LLM skipped (--skip-llm)
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 Shprintzen-Goldberg syndrome — check Associations / patient organisations on that page.
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.
("Shprintzen-Goldberg syndrome" OR "Marfanoid craniosynostosis syndrome" OR "Shprintzen Goldberg Syndrome") OR ("FBN1" OR "FBN1 syndrome" OR "FBN1-related" OR "SKI syndrome" OR "SKI-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Shprintzen-Goldberg syndrome" OR "Marfanoid craniosynostosis syndrome" OR "Shprintzen Goldberg Syndrome"
Study-type breakdown: 0 interventional · 2 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: SGS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (10810) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T20:13:40.796Z