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spondyloepimetaphyseal dysplasia, PAPSS2 type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, PAPSS2 type

MONDO:0019666

Also known as:brachyolmia 4 with mild epiphyseal and metaphyseal changesspondyloepimetaphyseal dysplasia Pakistani typespondyloepimetaphyseal dysplasia, Pakistani type

Overview

A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

GeneticsAutosomal recessive · PAPSS2 (chr 10)

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: Kyphoscoliosis, Irregular vertebral endplates, Lower limb undergrowth, and Brachydactyly and 9 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Kyphoscoliosis, Irregular vertebral endplates, Lumbar scoliosis

Genetic Landscape

PAPSS2 function has not been fully characterized.

Spondyloepimetaphyseal dysplasia, PAPSS2 type is associated with mutations in the PAPSS2 gene on chromosome 10.

Diagnosis

Genetic testing for PAPSS2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612847

Orphanet

European rare disease database

Orphanet:93282

GARD

Genetic and Rare Diseases Info Center

GARD:16813

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spondyloepimetaphyseal dysplasia, PAPSS2 type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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