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ORPHA:662179

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

high confidenceDisorder

Also known as: Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome · Nabais Sa-de Vries type 1 syndrome

Publications

6

21.7th percentile

Trials

2

Interventional, condition-specific

Researchers

37

Distinct authors in sample

Gene link

LMBRD2, SPOP

Strong

Readiness

3/6

Stages with a signal

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 (1)

nabais sa-de vries syndrome, type 1

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

    Strong — LMBRD2, SPOP

  2. LiteraturePresent

    6 matched papers (6 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

    2 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 (LMBRD2, SPOP).

GenCC classification: Strong.

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?

6

6 papers have ever been indexed 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.

6 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).

6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

37

Distinct author names in 6 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
    Abarca-Barriga HH1 paper · 2025

    Instituto de Investigaciones de Ciencias Biomédicas, Facultad de Medicina Humana, Universidad Ricardo Palma, Av. Benavides 5440. Santiago de Surco, Lima, 1801, Perú. hugo.abarca@urp.edu.pe.

    Papers in Europe PMC
  2. 02
    Arboleda VA1 paper · 2024

    Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.

    Papers in Europe PMC
  3. 03
    Barrón-Pastor HJ1 paper · 2025

    Facultad de Medicina Humana, Universidad Nacional Mayor de San Marcos. Lima, Lima, Perú.

    Papers in Europe PMC
  4. 04
    Bukowska-Olech E1 paper · 2024

    Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. ewe.olech@gmail.com.

    Papers in Europe PMC
  5. 05
    Castro-Coyotl DM1 paper · 2026

    Department of Medical Genetics, Teleton Children's Rehabilitation and Inclusion Center, Puebla, MEX.

    Papers in Europe PMC
  6. 06
    Cervantes-Larios J1 paper · 2026

    Department of Medical Genetics, General Hospital Zone No. 20, Mexican Social Security Institute, Puebla, MEX.

    Papers in Europe PMC
  7. 07
    Couser NL1 paper · 2022

    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine Richmond, VA, USA.

    Papers in Europe PMC
  8. 08
    Crisanto-López IE1 paper · 2026

    Department of Medical Genetics, General Hospital Zone No. 20, Mexican Social Security Institute, Puebla, MEX.

    Papers in Europe PMC
  9. 09
    Enomoto Y1 paper · 2025

    Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

    Papers in Europe PMC
  10. 10
    Ito H1 paper · 2025

    Department of Integrative Pharmacology, Graduate School of Medicine, Mie University, Tsu, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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.

"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome" OR "Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome" OR "Nabais Sa-de Vries type 1 syndrome" OR "nabais sa-de vries syndrome, type 1"

Run this search on Europe PMC

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

"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome" OR "Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome" OR "Nabais Sa-de Vries type 1 syndrome" OR "nabais sa-de vries syndrome, type 1" OR "LMBRD2" OR "SPOP"

Recall-expansion terms: LMBRD2, SPOP

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T20:09:53.085Z