RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:85192

Calvarial doughnut lesions-bone fragility syndrome

high confidenceDisorder

Also known as: Familial doughnut lesions of skull

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

5

12.1th percentile

Trials

0

Interventional, condition-specific

Researchers

25

Distinct authors in sample

Gene link

SGMS2

Strong

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary bone with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.

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)

calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia · familial doughnut lesions of skull

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.

  1. Gene identifiedPresent

    Strong — SGMS2

  2. LiteraturePresent

    5 matched papers (2 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (SGMS2).

GenCC classification: Strong.

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?

5

5 papers have ever been indexed 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.

5 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).

2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

25

Distinct author names in 5 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
    Bartlett JE1 paper · 1976
    Papers in Europe PMC
  2. 02
    Berger CE1 paper · 2000

    Department of Orthopaedics, Danube Hospital, Vienna, Austria.

    Papers in Europe PMC
  3. 03
    Bleik J1 paper · 2023

    Department of Ophthalmology, Lebanese American University Medical Center, Rizk Hospital, Beirut P.O. Box 13-5053, Lebanon.

    Papers in Europe PMC
  4. 04
    Chen L1 paper · 2022

    Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.

    Papers in Europe PMC
  5. 05
    Chouery E1 paper · 2023

    Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos P.O. Box 13-5053, Lebanon.

    Papers in Europe PMC
  6. 06
    Dib El Jalbout N1 paper · 2023

    Department of Ophthalmology, Lebanese American University Medical Center, Rizk Hospital, Beirut P.O. Box 13-5053, Lebanon.

    Papers in Europe PMC
  7. 07
    Engel A1 paper · 2000
    Papers in Europe PMC
  8. 08
    Haas OA1 paper · 2000
    Papers in Europe PMC
  9. 09
    Karam R1 paper · 2023

    Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos P.O. Box 13-5053, Lebanon.

    Papers in Europe PMC
  10. 10
    Kishore PR1 paper · 1976
    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 2026-07-26

Likely covered — the policy lists Osteogenesis imperfecta as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Calvarial doughnut lesions-bone fragility syndrome" OR "Familial doughnut lesions of skull" OR "Familial doughnut lesions of the skull" OR "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Doughnut Lesions of Skull, Familial

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

"Calvarial doughnut lesions-bone fragility syndrome" OR "Familial doughnut lesions of skull" OR "Familial doughnut lesions of the skull" OR "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" OR "Doughnut Lesions of Skull, Familial" OR "SGMS2"

Recall-expansion terms: SGMS2

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 2026-07-27T02:48:25.591Z