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

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

MONDO:0014552

Also known as:Meckel syndrome type 12MKS12Meckel syndrome 12

Overview

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

GeneticsAutosomal recessive · KIF14 (chr 1)

ResearchLimited published research (2 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: Microcephaly, Hypoplasia of the uterus, Cerebellar hypoplasia, and Joint stiffness present at birth (arthrogryposis multiplex congenita) and others; and common findings: Oligohydramnios, Bilateral renal agenesis, Sloping forehead, and Wide nasal bridge and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Bilateral renal agenesis, Renal hypoplasia

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.

KIF14 encodes kinesin family member 14 (1,648 aa). Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity. Highest expression in Cells EBV-transformed lymphocytes (16.3 TPM) and Cells Cultured fibroblasts (5.9 TPM).

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is associated with mutations in the KIF14 gene on chromosome 1.

The KIF14 protein participates in RHO GTPases activate CIT, Signaling by Rho GTPases, and RHO GTPase Effectors pathways.

KIF14 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIF14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 16 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 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome.

2 publications have been identified in PubMed for lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Trigubov D (2025). [PMID: 39775797](https://pubmed.ncbi.nlm.nih.gov/39775797/). *Prenat Diagn*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616258

Orphanet

European rare disease database

Orphanet:439897

GARD

Genetic and Rare Diseases Info Center

GARD:17743

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

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features