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ORPHA:818

Smith-Lemli-Opitz syndrome

low confidenceDisorder

Also known as: 7-dehydrocholesterol reductase deficiency · RSH syndrome · SLOS

Publications

5,623

Trials

9

Interventional, condition-specific

Researchers

1,051

Distinct authors in sample

Gene link

DHCR7

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic developmental disorder characterized by multiple anomalies (pre- and postnatal growth retardation, microcephaly, male genital anomalies), , and behavioral problems.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Rutledge lethal multiple congenital anomaly syndrome · SLO 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 — DHCR7

  2. LiteraturePresent

    5,623 matched papers (3,421 in last 10 years) Source

  3. Phenotype characterisedPresent

    223 HPO annotations (e.g. Talipes calcaneovalgus; Pyloric stenosis; Global developmental delay) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov

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 (DHCR7).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

223

Associated phenotypes · MONDO:0010035

  • Talipes calcaneovalgus
  • Pyloric stenosis
  • Global developmental delay
  • Growth delay
  • Abnormal dental morphology

Showing 5 of 223 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0010035

CTD chemicals (MyDisease.info)

4 associated chemicals · 10 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 24-hydroxycholesterol · marker/mechanism
  • 27-hydroxycholesterol · marker/mechanism
  • 7-dehydrocholesterol · marker/mechanism
  • Estriol · marker/mechanism

Pathways: Steroid biosynthesis; Metabolic pathways; Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol; Metabolism; Regulation of cholesterol biosynthesis by SREBP (SREBF); Cholesterol biosynthesis; Activation of gene expression by SREBF (SREBP); Metabolism of lipids and lipoproteins

MyDisease.info · MONDO:0010035

Literature

Is anyone studying this?

5,623

5,623 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.

5,623 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).

3,421 in the last 10 years · low confidence

Phrase hits: 2,430 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,051

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
    Porter FD9 papers · 2026

    Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Mirnics K8 papers · 2026

    Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, 68198, US. karoly.mirnics@unmc.edu.

    Papers in Europe PMC
  3. 03
    Xu L8 papers · 2026

    Department of Medicinal Chemistry, University of Washington, Seattle, United States.

    Papers in Europe PMC
  4. 04
    Francis KR7 papers · 2026

    Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA.

    Papers in Europe PMC
  5. 05
    Li A7 papers · 2026

    Department of Medicinal Chemistry, University of Washington, Seattle, United States.

    Papers in Europe PMC
  6. 06
    Bianconi S6 papers · 2025

    National Institute of Child Health and Development, NIH, Bethesda, USA.

    Papers in Europe PMC
  7. 07
    Korade Z6 papers · 2026

    Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, USA.

    Papers in Europe PMC
  8. 08
    Sengupta S5 papers · 2026

    Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA.

    Papers in Europe PMC
  9. 09
    Wassif CA5 papers · 2025

    Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Yaeger JDW5 papers · 2026

    Cellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, SD 57104, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

low confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

8 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Smith-Lemli-Opitz 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.

("Smith-Lemli-Opitz syndrome" OR "7-dehydrocholesterol reductase deficiency" OR "RSH syndrome" OR "Rutledge lethal multiple congenital anomaly syndrome" OR "SLO syndrome") OR ("DHCR7" OR "DHCR7 syndrome" OR "DHCR7-related")

Run this search on Europe PMC

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

"Smith-Lemli-Opitz syndrome" OR "7-dehydrocholesterol reductase deficiency" OR "RSH syndrome" OR "Rutledge lethal multiple congenital anomaly syndrome" OR "SLO 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: 9 interventional · 8 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

Synonyms dropped by stoplist: SLOS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5623) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:31:35.763Z