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spondyloepiphyseal dysplasia (SED) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepiphyseal dysplasia

MONDO:0016761

Also known as:SED

Overview

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.

OnsetMIDDLE_AGE, CHILDHOOD, CONGENITAL, INFANTILE, ADULT

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.

No HPO annotations are available for this condition.

Age of onset: middle age, childhood, at birth, infancy, adulthood.

GeneReviews

Clinical Guidance

MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) is characterized by postnatal-onset short stature, pectus deformity, kyphosis and/or scoliosis, hernia, protruding abdomen, cataract(s), developmental delay, and dysmorphic facial features, in combination with elevated lysosomal hydrolase enzyme levels in plasma. Additional features can include waddling or staggering gait, craniosynostosis, and seizures. To date six individuals with MBTPS1-SEMD from six families have been reported [, , , , , ]. Three additional affected individuals are known to the authors. The features in and the following description are based on published reports. Table 2. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) should be suspected in probands with the following clinical, laboratory, and imaging findings. Clinical findings (See and .)

Postnatal-onset short stature
Kyphosis and/or scoliosis
Inguinal hernia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for spondyloepiphyseal dysplasia. The disease remains an area of unmet medical need.

Gene therapy approaches for spondyloepiphyseal dysplasia have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with MBTPS1-SEMD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes: Recommended Surveillance

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 spondyloepiphyseal dysplasia.

42 publications have been identified in PubMed for spondyloepiphyseal dysplasia. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	16	38%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:252

Questions for Your Care Team

→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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Feature	Proportion of Persons w/Feature	Comments
Short stature	6/6	—
Chest deformity	6/6	Pectus carinatum, pectus excavatum
Kyphosis /or scoliosis	5/6	—
Hernia/ protruding abdomen	6/6	—
Cataract	5/6	—
Developmental delay	5/6	Incl gross motor speech delays Dysmorphic facies
Prominent forehead	5/6	—
Prominent cheek bones	5/6	—
Retromicrognathia	6/6	—
Wide mouth	5/6	—
Large ears	6/6	Growth deficiency. Postnatal-onset short stature was present in all reported individuals and was typically identified by age three years. Two individuals were treated with growth hormone therapy.

GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes

Gene	Disorder	MOI	Selected Features of Disorder
Silver-Russell syndrome	See footnote 1.	Growth deficiency; Relative macrocephaly; Frontal bossing or prominent forehead; Body asymmetry	ARSE
Chondrodysplasia punctata 1, X-linked	XL	Brachytelephalangy; Nasomaxillary hypoplasia; Postnatal short stature	Stippled epiphyses; Calcifications; Vertebral abnormalities
COL2A1	Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related (See Type II Collagen Disorders Overview.)	AD(AR)2	Severe disproportionate short stature, short extremities; Hypertelorism, flat profile, Pierre Robin sequence; Myopia hearing loss
risk for cervical instability spinal cord compression Spondyloperipheral dysplasia, COL2A1-related (See Type II Collagen Disorders Overview.)	AD	Mild-to-moderate disproportionate short stature short extremities; Brachydactyly type E, short ulnae, variable clubfeet, cleft palate; Myopia hearing loss	Ovoid vertebra; Delayed ossification of pubic bones; Flattened irregular epiphyses in long bones
Premature hip arthrosis causes joint pain. Kniest dysplasia, COL2A1-related (See Type II Collagen Disorders Overview.)	AD	Severe disproportionate short stature, short neck, short thorax, short extremities; Myopia, vitreous abnormalities, retinal detachment	Platyspondyly w/anterior wedging coronal clefting of lumbar vertebral bodies; Delayed ossification in distal femoral proximal tibial epiphyseal ossification centers
Short long bones w/large metaphyses epiphyses Spondyloepimetaphyseal dysplasia, COL2A1-related (See Type II Collagen Disorders Overview.)	AD	Infants initially present w/same findings as those w/SEDC.	—

Source: GeneReviews — "MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes"

Kisho

spondyloepiphyseal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth/Nutrition

Musculoskeletal

Hernia

Development

Genetic counseling

Clinical Guidance

Clinical Trials

Recent Publications

spondyloepiphyseal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth/Nutrition

Musculoskeletal

Hernia

Development

Genetic counseling

Clinical Guidance

Clinical Trials

Recent Publications