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spondyloepimetaphyseal dysplasia with joint laxity, type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Carpal bone hypoplasia, Narrow vertebral interpedicular distance, Patellar dislocation, and Knee dislocation and others; and rarely findings: Obesity. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Carpal bone hypoplasia, Short femoral neck, Multiple joint dislocation
Growth and development	1	Short stature
Arms and legs	1	Tapered finger

Age of onset: at birth.

GeneReviews

Clinical Guidance

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized by multiple joint dislocations, joint laxity, short stature, scoliosis, kyphosis, and skeletal dysplasia (delayed carpal/tarsal bone ossification, leptodactyly, slender ribs, and vertebral anomalies). To date, seven individuals from five unrelated families have been identified with biallelic pathogenic variants in EXOC6B [; ; ; Authors, personal communication]. Most individuals have normal intellect, though developmental delay and hydrocephalus were noted in one individual . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity: Frequency of Select Features

Feature	Proportion of Persons w/Feature	Comment
Clinical manifestations	Joint dislocations	7/7
Joint laxity	7/7	—
Short stature1	5/7	Postnatal onset

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

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) should be suspected in probands with the following clinical, imaging, and family history findings.

Clinical findings

Congenital dislocations of the hips and knees; may also affect elbows, wrists, and/or ankles
Joint laxity affecting all joints and most evident at the wrists and fingers
Postnatal-onset short stature
Slender fingers (leptodactyly)
Genu valgum
Pes planus

Imaging findings

Source: GeneReviews — "EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity"

GeneReviews

Differential Diagnosis

Table 3. Common Conditions with Multiple Joint Problems (Laxity, Dislocations, Restriction of Joint Movement) in the Differential Diagnosis of EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity

Gene	Disorder1	MOI	Clinical Findings	Imaging Findings
B3GALT6	SEMD-JL (Beighton type), B3GALT6-related(OMIM 271640)	AR	Prenatal-onset short stature; Facial dysmorphism (oval face, prominent forehead, prominent eyes, blue sclera, micrognathia, cleft palate); Progressive kyphoscoliosis joint dislocation

Genetic testing for EXOC6B is available. Testing is considered confirmatory for diagnosis.

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 spondyloepimetaphyseal dysplasia with joint laxity, type 3. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EXOC6B-SEMD-JL, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Cardiovascular	Echocardiography	For routine cardiac eval
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of EXOC6B-SEMD-JL to facilitate medical personal decision making Family support resources
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity: Recommended Surveillance System/Concern	Evaluation	Frequency
Joint manifestations	Assessment of joints by rheumatologist or orthopedic surgeon	Annually Scoliosis/Kyphosis

Source: GeneReviews — "EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity"

GeneReviews

Clinical Guidance

Activities with a high impact on joints that may increase the risk of dislocation should be avoided. Obesity should be avoided to reduce the negative impact on joints.

Source: GeneReviews — "EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity"

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spondyloepimetaphyseal dysplasia with joint laxity, type 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Clinical Trials

Prognosis

Surveillance Guidelines

Joint manifestations

Scoliosis/Kyphosis

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External Resources

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Questions for Your Care Team

spondyloepimetaphyseal dysplasia with joint laxity, type 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Clinical Trials

Prognosis

Surveillance Guidelines

Joint manifestations

Scoliosis/Kyphosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team