ORPHA:468631
Microcephalic cortical malformations-short stature due to RTTN deficiency
Publications
21
32th percentile
Trials
1
Interventional, condition-specific
Researchers
129
Distinct authors in sample
Gene link
RTTN
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe , and global . Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.
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:0018764
- OMIM:614833
- UMLS:C3553831
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — RTTN
- LiteraturePresent
21 matched papers (14 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (RTTN).
GenCC classification: Definitive.
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?
21
21 papers have ever been published on this condition (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.
21 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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
129
Distinct author names in 21 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.
- 01Frank LA2 papers · 2012Papers in Europe PMC
- 02McKinnon PJ2 papers · 2015
Department of Genetics, St Jude Children's Research Hospital, Memphis, TN, USA peter.mckinnon@stjude.org.
Papers in Europe PMC - 03Wang W2 papers · 2025
First Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Papers in Europe PMC - 04Abdelmotleb M1 paper · 2022
Department of Radiology, University of Washington, Seattle, WA, USA.
Papers in Europe PMC - 05Alfaro Ponce B1 paper · 2021
Department of Pediatrics, Albacete University Hospital Complex, Spain.
Papers in Europe PMC - 06Alhama-Belotto M1 paper · 2022
Department of Internal Medicine, Division of Cardiology, University of Washington, Seattle, WA, USA.
Papers in Europe PMC - 07Alkabie S1 paper · 2026
Department of Neurology, Lenox Hill Hospital, Northwell Health, New York, NY, USA.
Papers in Europe PMC - 08Amadori E1 paper · 2023
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
Papers in Europe PMC - 09Andresen IL1 paper · 2013Papers in Europe PMC
- 10Baquero Cano M1 paper · 2021
Department of Pediatrics, Albacete University Hospital Complex, Spain.
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; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
- NCT06111950·RECRUITING·Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
Conditions: Taybi Linder Syndrome · Microcephalic Osteodysplastic Primordial Dwarfism Types I and III · Roifman Syndrome · Lowry Wood Syndrome·Matched via recall expansion
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 cortical malformations-short stature due to RTTN deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephalic cortical malformations-short stature due to RTTN deficiency" OR "RTTN"
Recall-expansion terms: RTTN
Interventional trials matched via: recall-expansion (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, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T17:03:43.713Z