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ORPHA:139

CHILD syndrome

low confidenceDisorder

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

Publications

3,727,304

Trials

4

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

NSDHL

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NSDHL

  2. LiteraturePresent

    3,727,304 matched papers (1,379,605 in last 10 years) Source

  3. Phenotype characterisedPresent

    70 HPO annotations (e.g. Absent toe; Absent middle phalanx of 2nd finger; Finger syndactyly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. urea Source

  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)

70

Associated phenotypes · MONDO:0010621

  • Absent toe
  • Absent middle phalanx of 2nd finger
  • Finger syndactyly
  • Mild intrauterine growth retardation
  • Cleft upper lip

Showing 5 of 70 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · 1 with FDA orphan-indication approval

  • FDA ureaErythroderma Epidermolytic hyperkeratosis Lamellar ichthyosis X-linked ichthyosis Harlequin Ichthyosis Child syndrome Netherton Syndrome Netherton Syndrome Neutral lipid storage disease Trichothiodystrophy Collodion Baby Kid syndrome · 2011-11-07 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,727,304

3,727,304 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,727,304 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,379,605 in the last 10 years · low confidence

Phrase hits: 1,992 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,139

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
    Wang J5 papers · 2026

    Department of Orthopedics, School of Clinical Medicine, Jiamusi University, Jiamusi, China.

    Papers in Europe PMC
  2. 02
    Choate KA4 papers · 2025

    Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA.

    Papers in Europe PMC
  3. 03
    He Y4 papers · 2025

    Department of Dermatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    Jagannathan V4 papers · 2026

    Institute of Genetics, Vetsuisse Faculty, , ,

    Papers in Europe PMC
  5. 05
    Leeb T4 papers · 2026

    Institute of Genetics, Vetsuisse Faculty, , ,

    Papers in Europe PMC
  6. 06
    Li X4 papers · 2026

    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA; Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Electronic address: xiaochun.li@utsouthwestern.edu.

    Papers in Europe PMC
  7. 07
    Liu Y4 papers · 2026

    Key Laboratory of Sichuan Province for Fishes Conservation and Utilization in the Upper Reaches of the Yangtze River, Neijiang Normal University, Neijiang 641000, China.

    Papers in Europe PMC
  8. 08
    Zhang Y4 papers · 2026

    Department of Psychology, Clarkson University, Potsdam, NY, USA. yinzhang@clarkson.edu.

    Papers in Europe PMC
  9. 09
    Cai X3 papers · 2025

    School of Culture and Communication, Shandong University at Weihai, Weihai, China.

    Papers in Europe PMC
  10. 10
    Campos AR3 papers · 2025

    Sanford Burnham Prebys Medical Discovery Institute, United States.

    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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (40)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for CHILD syndrome — check Associations / patient organisations on that page.

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") OR ("NSDHL" OR "NSDHL syndrome" OR "NSDHL-related" OR "CHILD" OR "CHILD-related")

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"

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: ok — strategies attempted: phrase; 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 (3727304) 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