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microcephaly-brachydactyly-kyphoscoliosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-brachydactyly-kyphoscoliosis syndrome

MONDO:0018091

Also known as:Viljoen-Kallis-Voges syndromemicrocephaly brachydactyly kyphoscoliosismicrocephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability

Overview

Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.

Diagnosis

Biomarker and diagnostic research for microcephaly-brachydactyly-kyphoscoliosis 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-brachydactyly-kyphoscoliosis syndrome.

207 publications have been identified in PubMed for microcephaly-brachydactyly-kyphoscoliosis syndrome. Kisho has analyzed 158 by research type. Research spans Review / Meta-Analysis (58%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	92	58%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3433

GARD

Genetic and Rare Diseases Info Center

GARD:5490

Questions for Your Care Team

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microcephaly-brachydactyly-kyphoscoliosis syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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