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fetal akinesia deformation sequence 1 (FADS1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia deformation sequence 1

MONDO:0100101

Also known as:FADS1Pena-Shokeir syndrome type 1Pena-Shokeir syndrome, type 1

Overview

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.

GeneticsAutosomal recessive · MUSK (chr 9)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Congenital contracture and Wrist flexion contracture; and very common findings: Camptodactyly of finger, Pulmonary hypoplasia, Fetal akinesia sequence, and Joint stiffness present at birth (arthrogryposis multiplex congenita) and others. 60 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Decreased muscle mass, Hip contracture, Elbow contracture

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MUSK encodes muscle associated receptor tyrosine kinase (869 aa). Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Highest expression in Small Intestine Terminal Ileum (3.1 TPM) and Bladder (1.9 TPM).

Fetal akinesia deformation sequence 1 is associated with mutations in the MUSK gene on chromosome 9.

MUSK is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 2.6.

Diagnosis

Genetic testing for MUSK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for fetal akinesia deformation sequence 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 13 very common features, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fetal akinesia deformation sequence 1.

6 publications have been identified in PubMed for fetal akinesia deformation sequence 1. Research spans Case Report / Case Series (83%) and Diagnostic / Biomarker (17%).

Recent Publications

Arduç A (2026). [PMID: 40195522](https://pubmed.ncbi.nlm.nih.gov/40195522/). *Eur J Hum Genet*. [Diagnostic / Biomarker]
Shravya MS (2025). [PMID: 39807604](https://pubmed.ncbi.nlm.nih.gov/39807604/). *Clinical dysmorphology*. [Case Report / Case Series]
El Gazzane S (2025). [PMID: 40144631](https://pubmed.ncbi.nlm.nih.gov/40144631/). *Clin Med Insights Case Rep*. [Case Report / Case Series]
Fan L (2024). [PMID: 38937733](https://pubmed.ncbi.nlm.nih.gov/38937733/). *BMC medical genomics*. [Case Report / Case Series]
Turgut GT (2024). [PMID: 38278647](https://pubmed.ncbi.nlm.nih.gov/38278647/). *Clinical genetics*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208150

Orphanet

European rare disease database

Orphanet:994

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fetal akinesia deformation sequence 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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