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fetal akinesia deformation sequence 3 (FADS3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia deformation sequence 3

MONDO:0100103

Also known as:FADS3

Overview

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.

GeneticsAutosomal recessive · DOK7 (chr 4)

ResearchLimited published research (7 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: Downslanted palpebral fissures, Talipes, Rocker bottom foot, and Short neck and 4 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Rocker bottom foot, Overlapping fingers
Pregnancy and birth

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.

DOK7 encodes docking protein 7 (504 aa). Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Highest expression in Pituitary (28.3 TPM) and Heart Atrial Appendage (27.8 TPM).

Fetal akinesia deformation sequence 3 is associated with mutations in the DOK7 gene on chromosome 4.

DOK7 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for DOK7 is available. Testing is considered confirmatory for diagnosis.

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 3.

7 publications have been identified in PubMed for fetal akinesia deformation sequence 3. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (14%).

Recent Publications

Arduç A (2026). [PMID: 40195522](https://pubmed.ncbi.nlm.nih.gov/40195522/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]
Civit A (2026). [PMID: 41230573](https://pubmed.ncbi.nlm.nih.gov/41230573/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Shravya MS (2025). [PMID: 39807604](https://pubmed.ncbi.nlm.nih.gov/39807604/). *Clin Dysmorphol*. [Case Report / Case Series]
Komachali SR (2025). [PMID: 40390963](https://pubmed.ncbi.nlm.nih.gov/40390963/). *Journal of obstetrics and gynaecology of India*. [Case Report / Case Series]
Begum J (2025). [PMID: 39681016](https://pubmed.ncbi.nlm.nih.gov/39681016/). *European journal of obstetrics, gynecology, and reproductive biology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618389

GARD

Genetic and Rare Diseases Info Center

GARD:16496

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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