ORPHA:66629
Goldberg-Shprintzen megacolon syndrome
Also known as: GOSHS · Megacolon-microcephaly syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
121
58.8th percentile
Trials
0
Interventional, condition-specific
Researchers
773
Distinct authors in sample
Gene link
KIFBP
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global , and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).
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:0012280
- MeSH:C537279
- OMIM:609460
- UMLS:C1836123
Additional Mondo synonyms (2)
Goldberg-Shprintzen syndrome · megacolon-microcephaly 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 — KIFBP
- LiteraturePresent
121 matched papers (66 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 (KIFBP).
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?
121
121 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.
121 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).
66 in the last 10 years · high confidence · 58.8th percentile (publications denominator)
Phrase hits: 121 · MeSH hits: 0
Who's working on it?
773
Distinct author names in 121 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.
- 01Brooks AS7 papers · 2021
Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Papers in Europe PMC - 02Hofstra RM7 papers · 2020
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 03Amiel J5 papers · 2021
Département de Génétique, Unité INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
Papers in Europe PMC - 04Dobyns WB5 papers · 2016
Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Wash., USA.
Papers in Europe PMC - 05Osinga J5 papers · 2010Papers in Europe PMC
- 06Alves MM4 papers · 2021
Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Papers in Europe PMC - 07Cianfrocco MA4 papers · 2026
Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 08Lyonnet S4 papers · 2021
Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
Papers in Europe PMC - 09Stumpff J4 papers · 2026
Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT jstumpff@uvm.edu.
Papers in Europe PMC - 10de Graaff E3 papers · 2016
Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 Utrecht, the Netherlands; Department of Neuroscience, Erasmus Medical Center, 3015 Rotterdam, the Netherlands.
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.
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.
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.
"Goldberg-Shprintzen megacolon syndrome" OR "GOSHS" OR "Megacolon-microcephaly syndrome" OR "Goldberg-Shprintzen syndrome"
MeSH descriptor terms unioned into the query: Goldberg-Shprintzen megacolon syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Goldberg-Shprintzen megacolon syndrome" OR "GOSHS" OR "Megacolon-microcephaly syndrome" OR "Goldberg-Shprintzen syndrome" OR "KIFBP"
Recall-expansion terms: KIFBP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T01:21:43.016Z