Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

fetal akinesia deformation sequence 2 (FADS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia deformation sequence 2

MONDO:0100102

Also known as:FADS2

Overview

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

GeneticsAutosomal recessive · RAPSN (chr 11)

OnsetANTENATAL

ResearchLimited published research (9 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: Downslanted palpebral fissures, Tented upper lip vermilion, Wide nasal bridge, and Flexion contracture and others; and common findings: Cleft palate and Weak cry. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Tented upper lip vermilion, High palate

Genetic Landscape

RAPSN function has not been fully characterized.

Fetal akinesia deformation sequence 2 is associated with mutations in the RAPSN gene on chromosome 11.

Diagnosis

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

Biomarker and diagnostic research for fetal akinesia deformation sequence 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 2 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 2.

9 publications have been identified in PubMed for fetal akinesia deformation sequence 2. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Recent Publications

Wang L (2026). [PMID: 41800136](https://pubmed.ncbi.nlm.nih.gov/41800136/). *PeerJ*. [Epidemiology / Natural History]
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*. [Basic Science / Preclinical]
Kido J (2026). [PMID: 41826296](https://pubmed.ncbi.nlm.nih.gov/41826296/). *Human genome variation*. [Case Report / Case Series]
Shravya MS (2025). [PMID: 39807604](https://pubmed.ncbi.nlm.nih.gov/39807604/). *Clinical dysmorphology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618388

GARD

Genetic and Rare Diseases Info Center

GARD:16495

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?

← Back to All Diseases

fetal akinesia deformation sequence 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features