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ORPHA:329224

Schuurs-Hoeijmakers syndrome

medium confidenceDisorder

Also known as: PACS1-related NDD · PACS1-related neurodevelopmental disorder · PACS1-related syndrome

Publications

108

65.5th percentile

Trials

1

Interventional, condition-specific

Researchers

903

Distinct authors in sample

Gene link

PACS1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodevelopmental disorder characterized by mild-to-moderate , motor and speech delay, and characteristic craniofacial features. Other features might include , , feeding difficulties, autism spectrum disorder, and sleep disturbances. anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.

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 (6)

MRD17 · SHMS · autosomal dominant intellectual disability 17 · intellectual disability, autosomal dominant type 17 · intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome · mental retardation, autosomal dominant type 17

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 — PACS1

  2. LiteraturePresent

    108 matched papers (95 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

    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 (PACS1).

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?

108

108 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.

108 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).

95 in the last 10 years · medium confidence · 65.5th percentile (publications denominator)

Phrase hits: 108 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

903

Distinct author names in 108 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
    Pié J5 papers · 2026

    CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.

    Papers in Europe PMC
  2. 02
    Arnedo M4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  3. 03
    Ayerza-Casas A4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  4. 04
    Gil-Salvador M4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  5. 05
    Latorre-Pellicer A4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  6. 06
    Lucia-Campos C4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  7. 07
    Puisac B4 papers · 2026

    Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

    Papers in Europe PMC
  8. 08
    Ramos FJ4 papers · 2025

    CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro 3, 28029 Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Uehara T4 papers · 2021

    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    de Vries BBA3 papers · 2023

    Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. bert.devries@radboudumc.nl.

    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.

Observational and natural-history studies

1 observational study matches 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.

"Schuurs-Hoeijmakers syndrome" OR "PACS1-related NDD" OR "PACS1-related neurodevelopmental disorder" OR "PACS1-related syndrome" OR "MRD17" OR "autosomal dominant intellectual disability 17" OR "intellectual disability, autosomal dominant type 17" OR "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" OR "mental retardation, autosomal dominant type 17"

Run this search on Europe PMC

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

"Schuurs-Hoeijmakers syndrome" OR "PACS1-related NDD" OR "PACS1-related neurodevelopmental disorder" OR "PACS1-related syndrome" OR "MRD17" OR "autosomal dominant intellectual disability 17" OR "intellectual disability, autosomal dominant type 17" OR "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" OR "mental retardation, autosomal dominant type 17" OR "PACS1"

Recall-expansion terms: PACS1

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 · 1 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

Synonyms dropped by stoplist: SHMS

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

Ingested 2026-07-27T13:46:31.590Z