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spondylometaphyseal dysplasia, Golden type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondylometaphyseal dysplasia, Golden type

MONDO:0010738

Also known as:X-linked spondylometaphyseal dysplasiaspondylometaphyseal dysplasia Richmond typespondylometaphyseal dysplasia X-linked

Overview

Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.

GeneticsX-linked

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: Enlarged joints, Severe short stature, Strabismus, and Mild intellectual disability and 22 more.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Enlarged joints, Hyperextensibility of the finger joints, Excessive outward curvature of the upper spine (kyphosis)

Prognosis

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

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:313420

Orphanet

European rare disease database

Orphanet:168544

GARD

Genetic and Rare Diseases Info Center

GARD:8343

Questions for Your Care Team

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spondylometaphyseal dysplasia, Golden type

Overview

Clinical Presentation

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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