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spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

MONDO:0008469

Also known as:Whyte Petersen McAlister syndromeWhyte syndromespondyloepimetaphyseal dysplasia with hypotrichosis

Overview

A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.

Diagnosis

Biomarker and diagnostic research for spondyloepimetaphyseal dysplasia-hypotrichosis 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 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome.

25 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia-hypotrichosis syndrome. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	8	33%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:183849

Orphanet

European rare disease database

Orphanet:168443

GARD

Genetic and Rare Diseases Info Center

GARD:10101

Questions for Your Care Team

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spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications