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ORPHA:3005

Pyle disease

low confidenceDisorder

Also known as: Metaphyseal dysplasia, Pyle type · SFRP4-related Pyle disease

Publications

3,645

Trials

1

Interventional, condition-specific

Researchers

627

Distinct authors in sample

Gene link

SFRP4

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare bone characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.

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)

Bakwin-Krida syndrome · Pyle's disease · Pyle's syndrome · Pyle-Cohn syndrome · metaphyseal dysplasia Pyle type · metaphyseal dysplasia, Pyle type

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — SFRP4

  2. LiteraturePresent

    3,645 matched papers (2,465 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Erlenmeyer flask deformity of the femurs; Arthralgia; Thin calvarium) 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (SFRP4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0009943

  • Erlenmeyer flask deformity of the femurs
  • Arthralgia
  • Thin calvarium
  • Genu valgum
  • Mandibular prognathia

Showing 5 of 42 — 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?

3,645

3,645 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.

3,645 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).

2,465 in the last 10 years · low confidence

Phrase hits: 140 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

627

Distinct author names in 140 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Beighton P7 papers · 2021

    Department of Human Genetics, Medical School, University of Cape Town, Observatory, South Africa.

    Papers in Europe PMC
  2. 02
    Nishimura G6 papers · 2023

    Nasu-Chuou Hospital.

    Papers in Europe PMC
  3. 03
    Baron R5 papers · 2026

    Division of Bone and Mineral Research, Department of Oral Medicine, Infection, and Immunity, Harvard School of Dental Medicine, Boston, MA 02115.

    Papers in Europe PMC
  4. 04
    Gori F5 papers · 2026

    Division of Bone and Mineral Research, Department of Oral Medicine, Infection, and Immunity, Harvard School of Dental Medicine, Boston, MA 02115; francesca_gori@hsdm.harvard.edu.

    Papers in Europe PMC
  5. 05
    Chetty M4 papers · 2025

    Department of Craniofacial Biology, Faculty of Dentistry, University of the Western Cape, Cape Town, South Africa. drmchetty@mweb.co.za.

    Papers in Europe PMC
  6. 06
    Girisha KM4 papers · 2023

    Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

    Papers in Europe PMC
  7. 07
    Spranger J4 papers · 2019

    Central German Competence Center for Rare Diseases (MKSE), Magdeburg 39120, Germany; Greenwood Genetic Center, Greenwood, SC 29646, USA.

    Papers in Europe PMC
  8. 08
    Superti-Furga A4 papers · 2023

    Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  9. 09
    Brommage R3 papers · 2023

    Department of Internal Medicine and Clinical Nutrition, Centre for Bone and Arthritis Research, Institute of Medicine, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  10. 10
    Chen R3 papers · 2023

    Division of Bone and Mineral Research, Department of Oral Medicine, Infection, and Immunity, Harvard School of Dental Medicine, Boston, MA 02115.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Pyle disease — 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.

("Pyle disease" OR "Metaphyseal dysplasia, Pyle type" OR "SFRP4-related Pyle disease" OR "Bakwin-Krida syndrome" OR "Pyle's disease" OR "Pyle's syndrome" OR "Pyle-Cohn syndrome" OR "metaphyseal dysplasia Pyle type") OR ("SFRP4" OR "SFRP4 syndrome" OR "SFRP4-related")

Run this search on Europe PMC

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

"Pyle disease" OR "Metaphyseal dysplasia, Pyle type" OR "SFRP4-related Pyle disease" OR "Bakwin-Krida syndrome" OR "Pyle's disease" OR "Pyle's syndrome" OR "Pyle-Cohn syndrome" OR "metaphyseal dysplasia Pyle type"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3645) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:58:48.948Z