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ORPHA:137834

Frank-Ter Haar syndrome

medium confidenceDisorder

Also known as: Ter Haar syndrome

Publications

460

78.7th percentile

Trials

0

Interventional, condition-specific

Researchers

778

Distinct authors in sample

Gene link

SH3PXD2B

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary bone characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) 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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Borrone Dermatocardioskeletal syndrome · Borrone di Rocco Crovato 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 — SH3PXD2B

  2. LiteraturePresent

    460 matched papers (349 in last 10 years) Source

  3. Phenotype characterisedPresent

    94 HPO annotations (e.g. Kyphoscoliosis; Bilateral talipes equinovarus; Flared metaphysis) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) 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 (SH3PXD2B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

94

Associated phenotypes · MONDO:0009579

  • Kyphoscoliosis
  • Bilateral talipes equinovarus
  • Flared metaphysis
  • Ventricular septal defect
  • Osteopenia

Showing 5 of 94 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

460

460 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.

460 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).

349 in the last 10 years · medium confidence · 78.7th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

778

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
    Buday L13 papers · 2024

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary.

    Papers in Europe PMC
  2. 02
    Vas V10 papers · 2026

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary. vas.virag@ttk.mta.hu.

    Papers in Europe PMC
  3. 03
    Courtneidge SA9 papers · 2018

    Cancer Center, Tumor Microenvironment and Metastasis Program, Sanford-Burnham Medical Research Institute, La Jolla, California, United States of America.

    Papers in Europe PMC
  4. 04
    Geiszt M7 papers · 2021

    Department of Physiology, Semmelweis University Medical School, Budapest, Hungary ; "Lendület" Peroxidase Enzyme Research Group of the Semmelweis University and the Hungarian Academy of Sciences, Budapest 1094, Hungary.

    Papers in Europe PMC
  5. 05
    Kudlik G7 papers · 2021

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary.

    Papers in Europe PMC
  6. 06
    Szeder B7 papers · 2021

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary.

    Papers in Europe PMC
  7. 07
    Koprivanacz K6 papers · 2021

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary.

    Papers in Europe PMC
  8. 08
    Merő BL5 papers · 2020

    Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, 1117 Budapest, Hungary.

    Papers in Europe PMC
  9. 09
    Anderson MG4 papers · 2021

    Department of Molecular Physiology and Biophysics, University of Iowa, 51 Newton Rd., Iowa City, IA, 52242, USA; VA Center for the Prevention and Treatment of Visual Loss, Iowa City VA Health Care System, 601 Hwy 6 West (151), Iowa City, IA, 52246, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, 200 Hawkins Dr., Iowa City, IA, 52242, USA. Electronic address: michael-g-anderson@uiowa.edu.

    Papers in Europe PMC
  10. 10
    Fekete A4 papers · 2016

    Institute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences, Budapest 1113, Hungary.

    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.

medium 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 Frank-Ter Haar 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.

("Frank-Ter Haar syndrome" OR "Ter Haar syndrome" OR "Borrone Dermatocardioskeletal syndrome" OR "Borrone di Rocco Crovato syndrome") OR (MESH:"[OBSOLETE] Borrone Di Rocco Crovato syndrome" OR MESH:"Ter Haar syndrome") OR ("SH3PXD2B" OR "SH3PXD2B syndrome" OR "SH3PXD2B-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Borrone Di Rocco Crovato syndrome; Ter Haar syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Frank-Ter Haar syndrome" OR "Ter Haar syndrome" OR "Borrone Dermatocardioskeletal syndrome" OR "Borrone di Rocco Crovato syndrome" OR "[OBSOLETE] Borrone Di Rocco Crovato syndrome"

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

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (460) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:30:02.883Z