ORPHA:464366
NEK9-related lethal skeletal dysplasia
Also known as: Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
34.8th percentile
Trials
0
Interventional, condition-specific
Researchers
149
Distinct authors in sample
Gene link
NEK9
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
NEK9-related lethal skeletal is a rare, lethal, primary bone characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be 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:0014870
- OMIM:617022
- UMLS:C5568141
Additional Mondo synonyms (4)
LCCS10 · lethal congenital contracture syndrome 10 · lethal congenital contracture syndrome type 10 · lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — NEK9
- LiteraturePresent
17 matched papers (17 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 trialPartial
None under the specific name; 1 for broader category skeletal dysplasia
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 (NEK9).
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?
17
17 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.
17 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).
17 in the last 10 years · high confidence · 34.8th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
149
Distinct author names in 17 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.
- 01Chen C2 papers · 2022
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Papers in Europe PMC - 02Hu J2 papers · 2022
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Papers in Europe PMC - 03Ling K2 papers · 2022
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA. ling.kun@mayo.edu.
Papers in Europe PMC - 04
- 05Zhang Y2 papers · 2021
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Papers in Europe PMC - 06Al-Kouatly HB1 paper · 2021
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Papers in Europe PMC - 07Antoun S1 paper · 2020
Pediatrics Department, Hôtel-Dieu de France, Beirut, Lebanon.
Papers in Europe PMC - 08Arboleda VA1 paper · 2024
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Papers in Europe PMC - 09Averdunk L1 paper · 2023
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany.
Papers in Europe PMC - 10Avulakunta ID1 paper · 2023
Division of Neonatology, Jack D. Weiler Hospital, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
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). 1 trial are registered for skeletal dysplasia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched skeletal dysplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: skeletal dysplasia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"NEK9-related lethal skeletal dysplasia" OR "Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" OR "LCCS10" OR "lethal congenital contracture syndrome 10" OR "lethal congenital contracture syndrome type 10"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"NEK9-related lethal skeletal dysplasia" OR "Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" OR "LCCS10" OR "lethal congenital contracture syndrome 10" OR "lethal congenital contracture syndrome type 10" OR "NEK9" OR "lethal congenital contracture syndrome"
Recall-expansion terms: NEK9, lethal congenital contracture syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"skeletal dysplasia"
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 2026-07-27T16:55:36.453Z