RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:808

Seckel syndrome

low confidenceDisorder

Publications

3,821

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

ATRIP

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare microcephalic primordial dwarfism characterized by severe proportionate short stature of onset, primary microcephaly, distinctive facial features, and mild to severe .

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

SCKL · Seckel-type Dwarfism · bird-headed dwarfism · nanocephalic Dwarfism

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

    Limited — ATRIP

  2. LiteraturePresent

    3,821 matched papers (2,069 in last 10 years) Source

  3. Phenotype characterisedPresent

    309 HPO annotations (e.g. Micrognathia; Convex nasal ridge; Intellectual disability) Source

  4. Animal modelPresent

    5 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?

Possibly — only limited evidence so far for ATRIP.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

309

Associated phenotypes · MONDO:0019342

  • Micrognathia
  • Convex nasal ridge
  • Intellectual disability
  • Craniosynostosis
  • Intrauterine growth retardation

Showing 5 of 309 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

3,821

3,821 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.

3,821 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).

2,069 in the last 10 years · low confidence

Phrase hits: 1,219 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,221

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
    Martins RAP5 papers · 2021

    Programa de Biologia Celular e do Desenvolvimento, Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro 21941-902, Brazil.

    Papers in Europe PMC
  2. 02
    Bicknell LS4 papers · 2025

    Department of Biochemistry, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.

    Papers in Europe PMC
  3. 03
    Hamada N4 papers · 2026

    Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.

    Papers in Europe PMC
  4. 04
    Iwamoto I4 papers · 2026

    Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.

    Papers in Europe PMC
  5. 05
    Jackson AP4 papers · 2019

    MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

    Papers in Europe PMC
  6. 06
    Matos-Rodrigues GE4 papers · 2021

    Programa de Biologia Celular e do Desenvolvimento, Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

    Papers in Europe PMC
  7. 07
    Nagata KI4 papers · 2026

    Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan. knagata@inst-hsc.jp.

    Papers in Europe PMC
  8. 08
    Rass U4 papers · 2025

    Friedrich Miescher Institute for Biomedical Research, CH-4058 Basel, Switzerland.

    Papers in Europe PMC
  9. 09
    Wollnik B4 papers · 2025

    Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

    Papers in Europe PMC
  10. 10
    Appanah R3 papers · 2025

    Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RQ, UK.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched 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 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 Seckel 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.

("Seckel syndrome" OR "Seckel-type Dwarfism" OR "bird-headed dwarfism" OR "nanocephalic Dwarfism") OR ("ATRIP" OR "ATRIP syndrome" OR "ATRIP-related")

Run this search on Europe PMC

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

"Seckel syndrome" OR "Seckel-type Dwarfism" OR "bird-headed dwarfism" OR "nanocephalic Dwarfism"

Study-type breakdown: 0 interventional · 1 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: SCKL

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:26:11.976Z