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ORPHA:127

Borjeson-Forssman-Lehmann syndrome

low confidenceDisorder

Also known as: BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome

Publications

2,855

Trials

0

Interventional, condition-specific

Researchers

1,470

Distinct authors in sample

Gene link

PHF6

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

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 (8)

BORJ · Borjeson syndrome · Borjeson-Forssman-Lehmann syndrome, X-linked recessive · Börjeson-Forssman-Lehman Syndrome · MRXSBFL · intellectual disability, epilepsy, and endocrine disorder · intellectual disability-epilepsy-endocrine disorders syndrome · syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann 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

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 — PHF6

  2. LiteraturePresent

    2,855 matched papers (2,306 in last 10 years) Source

  3. Phenotype characterisedPresent

    66 HPO annotations (e.g. Widely spaced toes; Shortening of all middle phalanges of the fingers; Scheuermann-like vertebral changes) Source

  4. Animal modelPresent

    2 genotype models (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 (PHF6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

66

Associated phenotypes · MONDO:0010537

  • Widely spaced toes
  • Shortening of all middle phalanges of the fingers
  • Scheuermann-like vertebral changes
  • Prominent supraorbital ridges
  • Shortening of all distal phalanges of the fingers

Showing 5 of 66 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

2,855

2,855 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.

2,855 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).

2,306 in the last 10 years · low confidence

Phrase hits: 309 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,470

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.

  1. 01
    Zhang X8 papers · 2025

    Department of Physics, State Key Laboratory of Surface Physics, and Key Laboratory for Computational Physical Sciences (Ministry of Education), Fudan University, Shanghai, 200438, P. R. China.

    Papers in Europe PMC
  2. 02
    Li Y6 papers · 2026

    School of Medical Technology, Xuzhou Medical University, Xuzhou, Jiangsu, China.

    Papers in Europe PMC
  3. 03
    Sun Y6 papers · 2026

    Department of Burn Surgery, the Affiliated Huaihai Hospital of Xuzhou Medical University, Xuzhou, 221004, Jiangsu Province, China. sunyong_97@163.com.

    Papers in Europe PMC
  4. 04
    Wang W6 papers · 2026

    Department of Physiology, Hebei Medical University, Shijiazhuang, China.

    Papers in Europe PMC
  5. 05
    Wang Y6 papers · 2026

    Blood Diseases Institute, Xuzhou Medical University, No. 209, Tongshan Road, Xuzhou, Jiangsu, 221004, China.

    Papers in Europe PMC
  6. 06
    Wu J6 papers · 2026

    Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, 230026, Anhui, China. wujihui@ustc.edu.cn.

    Papers in Europe PMC
  7. 07
    Wu X6 papers · 2026

    Department of Hematology, The First Affiliated Hospital of Guilin Medical University, Guilin, China.

    Papers in Europe PMC
  8. 08
    Chen Y5 papers · 2026

    Department of Physics, State Key Laboratory of Surface Physics, and Key Laboratory for Computational Physical Sciences (Ministry of Education), Fudan University, Shanghai, 200438, P. R. China.

    Papers in Europe PMC
  9. 09
    Huang J5 papers · 2026

    Department of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.

    Papers in Europe PMC
  10. 10
    Liu Y5 papers · 2026

    Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, National Health Committee Key Laboratory of Pediatric Hematology and Oncology, Shanghai, China.

    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.

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.

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 2026-07-29

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).

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 Borjeson-Forssman-Lehmann 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.

("Borjeson-Forssman-Lehmann syndrome" OR "Intellectual disability-epilepsy-endocrine disorders syndrome" OR "Borjeson syndrome" OR "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" OR "Börjeson-Forssman-Lehman Syndrome" OR "MRXSBFL" OR "intellectual disability, epilepsy, and endocrine disorder" OR "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type") OR ("PHF6" OR "PHF6 syndrome" OR "PHF6-related")

Run this search on Europe PMC

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

"Borjeson-Forssman-Lehmann syndrome" OR "Intellectual disability-epilepsy-endocrine disorders syndrome" OR "Borjeson syndrome" OR "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" OR "Börjeson-Forssman-Lehman Syndrome" OR "MRXSBFL" OR "intellectual disability, epilepsy, and endocrine disorder" OR "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type"

Study-type breakdown: 0 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

Synonyms dropped by stoplist: BFLS; BORJ

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2855) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:32:21.733Z