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ORPHA:139

CHILD syndrome

low confidenceDisorder

Also known as: CHILD nevus · Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

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

Publications

1,992

Trials

4

Interventional, condition-specific

Researchers

1,064

Distinct authors in sample

Gene link

NSDHL

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

CHILD syndrome, X-linked dominant · Ichthyosis, CHILD Syndrome · child nevus · child 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 — NSDHL

  2. LiteraturePresent

    1,992 matched papers (496 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

    4 matched on ClinicalTrials.gov (2 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 (NSDHL).

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?

1,992

1,992 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.

1,992 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).

496 in the last 10 years · low confidence

Phrase hits: 1,992 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,064

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
    Choate KA5 papers · 2025

    Department of Pharmacy, Charles University, Hradec Kralove, Czech Republic; Department of Dermatology, Genetics, and Pathology, Yale University, New Haven, Connecticut.

    Papers in Europe PMC
  2. 02
    Elias PM5 papers · 2018

    Dermatology Service, Veterans Affairs Medical Center, San Francisco, California; Department of Dermatology, University of California, San Francisco, San Francisco, California. Electronic address: peter.elias@ucsf.edu.

    Papers in Europe PMC
  3. 03
    Shaw RJ5 papers · 2026

    Stanford University Medical Center, Palo Alto, CA, USA.

    Papers in Europe PMC
  4. 04
    Williams ML5 papers · 2012
    Papers in Europe PMC
  5. 05
    Happle R4 papers · 2020

    Department of Dermatology, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany.

    Papers in Europe PMC
  6. 06
    He M4 papers · 2024

    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

    Papers in Europe PMC
  7. 07
    Traupe H4 papers · 2026

    Department of Dermatology, University Hospital Muenster, Von-Esmarch-Str. 56, 48149 Münster, Germany.

    Papers in Europe PMC
  8. 08
    Crumrine D3 papers · 2018

    Dermatology Service, Veterans Affairs Medical Center, San Francisco, California; Department of Dermatology, University of California, San Francisco, San Francisco, California.

    Papers in Europe PMC
  9. 09
    Has C3 papers · 2022

    Department of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany. cristina.has@uniklinik-freiburg.de.

    Papers in Europe PMC
  10. 10
    Hoge MK3 papers · 2026

    University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: Margaret.hoge@utsouthwestern.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

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.

"CHILD syndrome" OR "CHILD nevus" OR "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects" OR "CHILD syndrome, X-linked dominant" OR "Ichthyosis, CHILD Syndrome"

Run this search on Europe PMC

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

"CHILD syndrome" OR "CHILD nevus" OR "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects" OR "CHILD syndrome, X-linked dominant" OR "Ichthyosis, CHILD Syndrome" OR "NSDHL"

Recall-expansion terms: NSDHL

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: 4 interventional · 3 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1992) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:36:15.311Z