RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:994

Fetal akinesia deformation sequence

medium confidenceDisorder

Also known as: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS · Pena-Shokeir syndrome type 1

Publications

4,843

96.7th percentile

Trials

8

Interventional, condition-specific

Researchers

1,386

Distinct authors in sample

Gene link

MUSK

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

FADS1 · Pena-Shokeir 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 — MUSK

  2. LiteraturePresent

    4,843 matched papers (3,502 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

    8 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 (MUSK).

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?

4,843

4,843 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.

4,843 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).

3,502 in the last 10 years · medium confidence · 96.7th percentile (publications denominator)

Phrase hits: 4,843 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,386

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 Y8 papers · 2026

    Central Laboratory of the People's Hospital of Dazu, The Affiliated Dazu Hospital of Chongqing Medical University, 402360 Chongqing, China.

    Papers in Europe PMC
  2. 02
    Zhang Q8 papers · 2026

    Key Laboratory of Animal Nutrition and Feed Science at Universities of Inner Mongolia Autonomous Region, College of Animal Science, Inner Mongolia Agricultural University, Hohhot 010018, China.

    Papers in Europe PMC
  3. 03
    Zhang X8 papers · 2026

    Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

    Papers in Europe PMC
  4. 04
    Huang J7 papers · 2026

    Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou University, Guiyang 550025, China; Guizhou Provincial Key Laboratory of Animal Genetics, Breeding and Reproduction, Guizhou University, Guiyang 550025, China; College of Animal Science, Guizhou University, Guiyang 550025, China.

    Papers in Europe PMC
  5. 05
    Chen H6 papers · 2026

    Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

    Papers in Europe PMC
  6. 06
    Chen X6 papers · 2026

    Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou University, Guiyang 550025, China; Guizhou Provincial Key Laboratory of Animal Genetics, Breeding and Reproduction, Guizhou University, Guiyang 550025, China; College of Animal Science, Guizhou University, Guiyang 550025, China.

    Papers in Europe PMC
  7. 07
    Liu Y6 papers · 2026

    Key Laboratory of Metabolism and Molecular Medicine of the Ministry of Education, Department of Biochemistry and Molecular Biology of School of Basic Medical Sciences, and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Li X5 papers · 2026

    Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, School of Medical Technology, Shanghai University of Medicine & Health Sciences, Shanghai, China.

    Papers in Europe PMC
  9. 09
    Li Y5 papers · 2026

    Chinese Sturgeon Research Institute, China Three Gorges Corporation, Yichang, Hubei 443100, China; Hubei Key Laboratory of Three Gorges Project for Conservation of Fishes, Yichang, Hubei, 443100, China. Electronic address: liyang091616@163.com.

    Papers in Europe PMC
  10. 10
    Li Z5 papers · 2026

    Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou University, Guiyang 550025, China; Guizhou Provincial Key Laboratory of Animal Genetics, Breeding and Reproduction, Guizhou University, Guiyang 550025, China; College of Animal Science, Guizhou University, Guiyang 550025, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

medium confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

"Fetal akinesia deformation sequence" OR "Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" OR "Pena-Shokeir syndrome type 1" OR "FADS1" OR "Pena-Shokeir syndrome, type 1"

Run this search on Europe PMC

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

"Fetal akinesia deformation sequence" OR "Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" OR "Pena-Shokeir syndrome type 1" OR "FADS1" OR "Pena-Shokeir syndrome, type 1" OR "MUSK"

Recall-expansion terms: MUSK

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: 8 interventional · 5 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: FADS

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 2026-07-26T16:08:35.876Z