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ORPHA:66629

Goldberg-Shprintzen megacolon syndrome

high confidenceDisorder

Also known as: GOSHS · Megacolon-microcephaly syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

163

57.8th percentile

Trials

0

Interventional, condition-specific

Researchers

773

Distinct authors in sample

Gene link

KIFBP

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — KIFBP

  2. LiteraturePresent

    163 matched papers (106 in last 10 years) Source

  3. Phenotype characterisedPresent

    64 HPO annotations (e.g. Specific learning disability; Pointed chin; Finger syndactyly) Source

  4. Animal modelPresent

    3 genotype models (Danio rerio, Mus musculus) Source

  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 (KIFBP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

64

Associated phenotypes · MONDO:0012280

  • Specific learning disability
  • Pointed chin
  • Finger syndactyly
  • Microcephaly
  • Short stature

Showing 5 of 64 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

163

163 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=3967) is 59.

163 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).

106 in the last 10 years · high confidence · 57.8th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Brooks AS7 papers · 2021

    Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Hofstra RM7 papers · 2020

    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Amiel 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
  4. 04
    Dobyns 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
  5. 05
    Osinga J5 papers · 2010
    Papers in Europe PMC
  6. 06
    Alves MM4 papers · 2021

    Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Cianfrocco MA4 papers · 2026

    Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  8. 08
    Lyonnet 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
  9. 09
    Stumpff J4 papers · 2026

    Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT jstumpff@uvm.edu.

    Papers in Europe PMC
  10. 10
    de 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 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.

high 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Goldberg-Shprintzen megacolon 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.

("Goldberg-Shprintzen megacolon syndrome" OR "GOSHS" OR "Megacolon-microcephaly syndrome" OR "Goldberg-Shprintzen syndrome") OR (MESH:"Goldberg-Shprintzen megacolon syndrome") OR ("KIFBP" OR "KIFBP syndrome" OR "KIFBP-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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