ORPHA:319675
Microcephalic primordial dwarfism, Dauber type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
15
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
108
Distinct authors in sample
Gene link
NIN
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip ) and . Absence of thelarche and menarche is also associated.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013922
- OMIM:614851
- UMLS:C3553870
Additional Mondo synonyms (6)
NIN Seckel syndrome · SCKL7 · Seckel syndrome 7 · Seckel syndrome caused by mutation in NIN · Seckel syndrome type 7 · microcephalic primordial dwarfism, Dauber 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.”
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.
- Gene identifiedPresent
Limited — NIN
- LiteraturePresent
15 matched papers (13 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 NIN.
GenCC classification: Limited.
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?
15
15 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.
15 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
108
Distinct author names in 15 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.
- 01Passemard S2 papers · 2023
Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, 75019 Paris, France.
Papers in Europe PMC - 02Achkasova KA1 paper · 2026
Institute of Neuroscience, Lobachevsky State University of Nizhny Novgorod, 23 Gagarin Ave., 603022 Nizhny Novgorod, Russia.
Papers in Europe PMC - 03Afroozan F1 paper · 2025
Kariminejad-Najmabadi Pathology & Genetics Center, Tehran Iran.
Papers in Europe PMC - 04Ahangari F1 paper · 2025
Kariminejad-Najmabadi Pathology & Genetics Center, Tehran Iran.
Papers in Europe PMC - 05Appanah R1 paper · 2020
Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RQ, UK.
Papers in Europe PMC - 06Baehr W1 paper · 2019
Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences, Salt Lake City, UT, 84132, USA. Electronic address: wbaehr@hsc.utah.edu.
Papers in Europe PMC - 07Bahi-Buisson N1 paper · 2023
Service de Neurologie Pédiatrique, DMU MICADO, APHP, Hôpital Necker Enfants Malades, 75015 Paris, France.
Papers in Europe PMC - 08Bergalet J1 paper · 2016
RNA Biology Unit, Institut de recherches cliniques de Montréal (IRCM), Montréal, Québec H2W 1R7, Canada.
Papers in Europe PMC - 09
- 10Braschi B1 paper · 2022
HUGO Gene Nomenclature Committee, European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridgeshire, 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 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 2026-07-26This 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.
"Microcephalic primordial dwarfism, Dauber type" OR "NIN Seckel syndrome" OR "SCKL7" OR "Seckel syndrome 7" OR "Seckel syndrome caused by mutation in NIN" OR "Seckel syndrome type 7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephalic primordial dwarfism, Dauber type" OR "NIN Seckel syndrome" OR "SCKL7" OR "Seckel syndrome 7" OR "Seckel syndrome caused by mutation in NIN" OR "Seckel syndrome type 7" OR "NIN"
Recall-expansion terms: NIN
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T13:31:59.655Z