ORPHA:2484
Melnick-Needles syndrome
Also known as: Melnick-Needles osteodysplasty
Publications
237
63.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,158
Distinct authors in sample
Gene link
FLNA
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
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:0010650
- OMIM:309350
- UMLS:C0025237
Additional Mondo synonyms (2)
Melnick Needles Syndrome · Melnick-Needles syndrome, X-linked dominant
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 — FLNA
- LiteraturePresent
237 matched papers (82 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 (FLNA).
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?
237
237 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.
237 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).
82 in the last 10 years · medium confidence · 63.1th percentile (publications denominator)
Phrase hits: 237 · MeSH hits: 0
Who's working on it?
1,158
Distinct author names in 200 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.
- 01Robertson SP11 papers · 2023
Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, United Kingdom.
Papers in Europe PMC - 02
- 03Wilkie AO5 papers · 2015
Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Papers in Europe PMC - 04Butler MG4 papers · 2022
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA.
Papers in Europe PMC - 05Fryns JP4 papers · 2008
Center for Human Genetics, University of Leuven, Belgium.
Papers in Europe PMC - 06Gorlin RJ4 papers · 2003Papers in Europe PMC
- 07Kim CA4 papers · 2012Papers in Europe PMC
- 08Sheen VL4 papers · 2017
Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA.
Papers in Europe PMC - 09Coupry I3 papers · 2016
Université de Bordeaux, INSERM U1211, Laboratoire Maladies Rares: Génétique et Métabolisme, Bordeaux, France.
Papers in Europe PMC - 10Goizet C3 papers · 2016
CHU Bordeaux, Hôpital Pellegrin, Department of Medical Genetics, Centre de Référence des Anomalies du Développement Embryonnaire, Bordeaux cedex, France.
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).
medium 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.
- NCT07592637·NOT YET RECRUITING·Lung Disease and FLNA Mutations
Conditions: Emphysema·Matched via name phrase
Observational and natural-history studies
3 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT07448753·ENROLLING BY INVITATION·ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility
Conditions: Pseudo Obstruction·Matched via name phrase
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.
"Melnick-Needles syndrome" OR "Melnick-Needles osteodysplasty" OR "Melnick Needles Syndrome" OR "Melnick-Needles syndrome, X-linked dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Melnick-Needles syndrome" OR "Melnick-Needles osteodysplasty" OR "Melnick Needles Syndrome" OR "Melnick-Needles syndrome, X-linked dominant" OR "FLNA"
Recall-expansion terms: FLNA
Interventional trials matched via: phrase (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 · 3 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
- Publication count (237) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T20:18:24.976Z