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metaphyseal acroscyphodysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metaphyseal acroscyphodysplasia

MONDO:0009592

Also known as:Bellini syndromeintellectual disability-short stature-wedge-shaped epiphyses of knees syndromeBellini Chiumello Rimoldi syndrome

Overview

Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.

Diagnosis

Biomarker and diagnostic research for metaphyseal acroscyphodysplasia has been reported in the published literature.

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 metaphyseal acroscyphodysplasia.

51 publications have been identified in PubMed for metaphyseal acroscyphodysplasia. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (24%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Disease patterns and progression	14	27%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:250215

Orphanet

European rare disease database

Orphanet:1240

GARD

Genetic and Rare Diseases Info Center

GARD:3519

Questions for Your Care Team

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metaphyseal acroscyphodysplasia

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications