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mesomelic dysplasia, Savarirayan type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mesomelic dysplasia, Savarirayan type

MONDO:0011530

Also known as:mesomelic dysplasia with absent fibulas and triangular tibiastriangular tibia-fibular aplasia syndromemesomelic dysplasia Savarirayan type

Overview

Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Short stature; and common findings: Fibular hypoplasia, Limited elbow extension and supination, Talipes equinovalgus, and Short forearm and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Abnormal foot morphology, Hand abnormalities (abnormality of the hand)

Prognosis

Phenotype severity distribution: 1 always present feature, 14 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 mesomelic dysplasia, Savarirayan type.

1 publication has been identified in PubMed for mesomelic dysplasia, Savarirayan type. Research spans Basic Science / Preclinical (100%).

Recent Publications

Lucas-Castro E (2026). [PMID: 42069959](https://pubmed.ncbi.nlm.nih.gov/42069959/). *Eur J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605274

Orphanet

European rare disease database

Orphanet:85170

GARD

Genetic and Rare Diseases Info Center

GARD:10584

Questions for Your Care Team

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mesomelic dysplasia, Savarirayan type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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