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cono-spondylar dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cono-spondylar dysplasia

MONDO:0018490

Also known as:short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

Overview

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.

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 cono-spondylar dysplasia.

10 publications have been identified in PubMed for cono-spondylar dysplasia. Research spans Clinical Trial Publication (30%), Basic Science / Preclinical (30%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Clinical study results	3	30%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:420794

GARD

Genetic and Rare Diseases Info Center

GARD:21750

Questions for Your Care Team

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cono-spondylar dysplasia

Overview

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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