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ORPHA:634

Netherton syndrome

low confidenceDisorder

Also known as: Bamboo hair syndrome · Comèl-Netherton syndrome · NS

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,333

Trials

18

Interventional, condition-specific

Researchers

1,164

Distinct authors in sample

Gene link

SPINK5

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Netherton syndrome (NS) is a skin disorder characterized by ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Ichthyosis, Netherton Syndrome · bamboo hair 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SPINK5

  2. LiteraturePresent

    1,333 matched papers (846 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (5 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 (SPINK5).

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?

1,333

1,333 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=5449) is 41.

1,333 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).

846 in the last 10 years · low confidence

Phrase hits: 1,333 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,164

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.

  1. 01
    Bodemer C8 papers · 2026

    Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP5), Imagine Institute, INSERM, Paris-Centre University, Paris, France.

    Papers in Europe PMC
  2. 02
    Fischer J7 papers · 2026

    European Reference Networks (ERN Skin), 75015 Paris, France.

    Papers in Europe PMC
  3. 03
    Liu Y7 papers · 2026

    Institute of Dermatology, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  4. 04
    Paller AS7 papers · 2026

    Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

    Papers in Europe PMC
  5. 05
    Akiyama M6 papers · 2025

    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Pasmans SGMA6 papers · 2026

    Department of Dermatology, Center of Pediatric Dermatology, Erasmus MC University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Süßmuth K6 papers · 2026

    Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.

    Papers in Europe PMC
  8. 08
    Traupe H6 papers · 2026

    Department of Dermatology, University Hospital of Münster, Münster, Germany.

    Papers in Europe PMC
  9. 09
    Castagnoli R5 papers · 2026

    Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  10. 10
    Gostynski A5 papers · 2026

    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

18 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.1th percentile).

low confidence · 94.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Netherton syndrome" OR "Bamboo hair syndrome" OR "Comèl-Netherton syndrome" OR "Ichthyosis, Netherton Syndrome"

Run this search on Europe PMC

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

"Netherton syndrome" OR "Bamboo hair syndrome" OR "Comèl-Netherton syndrome" OR "Ichthyosis, Netherton Syndrome" OR "SPINK5"

Recall-expansion terms: SPINK5

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: 18 interventional · 4 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

Synonyms dropped by stoplist: NS

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 2026-07-26T14:38:53.457Z