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fetal akinesia deformation sequence 4 (FADS4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia deformation sequence 4

MONDO:0100104

Also known as:FADS4

Overview

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.

GeneticsAutosomal recessive · NUP88 (chr 17)

ResearchLimited published research (5 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: Wide nasal bridge, Joint stiffness present at birth (arthrogryposis multiplex congenita), Decreased fetal movement, and High palate and others; and common findings: Skeletal muscle atrophy, Polyhydramnios, Broad neck, and Short neck and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Pregnancy and birth	3	Fetal pleural effusion, Absence of stomach bubble on fetal sonography, Decreased fetal movement

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.

NUP88 encodes nucleoporin 88 (741 aa). Component of nuclear pore complex Highest expression in Testis (81.2 TPM) and Cells EBV-transformed lymphocytes (61.5 TPM).

Fetal akinesia deformation sequence 4 is associated with mutations in the NUP88 gene on chromosome 17.

NUP88 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NUP88 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for fetal akinesia deformation sequence 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 6 common features.

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 4.

5 publications have been identified in PubMed for fetal akinesia deformation sequence 4. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Diagnostic / Biomarker (20%).

Recent Publications

Arduç A (2026). [PMID: 40195522](https://pubmed.ncbi.nlm.nih.gov/40195522/). *Eur J Hum Genet*. [Diagnostic / Biomarker]
McAdam A (2025). [PMID: 39713852](https://pubmed.ncbi.nlm.nih.gov/39713852/). *Am J Med Genet A*. [Case Report / Case Series]
Begum J (2025). [PMID: 39681016](https://pubmed.ncbi.nlm.nih.gov/39681016/). *Eur J Obstet Gynecol Reprod Biol*. [Case Report / Case Series]
Li Y (2024). [PMID: 39080077](https://pubmed.ncbi.nlm.nih.gov/39080077/). *J Cancer Res Clin Oncol*. [Review / Meta-Analysis]
Fare CM (2024). [PMID: 38383349](https://pubmed.ncbi.nlm.nih.gov/38383349/). *Nucleus*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618393

GARD

Genetic and Rare Diseases Info Center

GARD:16497

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 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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