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microcephaly-cervical spine fusion anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-cervical spine fusion anomalies syndrome

MONDO:0009621

Also known as:microcephaly cervical spine fusion anomaliesmicrocephaly with cervical spine fusion anomaliesmicrocephaly, mild intellectual disability, short stature, and skeletal anomalies

Overview

Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.

GeneticsAutosomal recessive

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: Microcephaly, Short stature, Spinal cord compression, and Vertebral fusion and 2 more.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Growth and development

Diagnosis

Biomarker and diagnostic research for microcephaly-cervical spine fusion anomalies syndrome has been reported in the published literature.

Prognosis

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 microcephaly-cervical spine fusion anomalies syndrome.

60 publications have been identified in PubMed for microcephaly-cervical spine fusion anomalies syndrome. Research spans Case Report / Case Series (62%), Review / Meta-Analysis (17%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Patient case studies	37	62%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:251250

Orphanet

European rare disease database

Orphanet:2522

GARD

Genetic and Rare Diseases Info Center

GARD:3610

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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microcephaly-cervical spine fusion anomalies syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephaly-cervical spine fusion anomalies syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications