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ORPHA:994

Fetal akinesia deformation sequence

medium confidenceDisorder

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

Publications

28,551

98.1th percentile

Trials

0

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — MUSK

  2. LiteraturePresent

    28,551 matched papers (16,466 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Cystic hygroma; Posteriorly rotated ears; Increased nuchal translucency) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

73

Associated phenotypes · MONDO:0100101

  • Cystic hygroma
  • Posteriorly rotated ears
  • Increased nuchal translucency
  • Blepharophimosis
  • Ulnar deviation of the hand or of fingers of the hand

Showing 5 of 73 — 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)

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

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?

28,551

28,551 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.

28,551 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).

16,466 in the last 10 years · medium confidence · 98.1th 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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Fetal akinesia deformation sequence — 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.

("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" OR "MUSK syndrome" OR "MUSK-related")

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"

Study-type breakdown: 0 interventional · 0 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: 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