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Spondyloepiphyseal dysplasia tarda
Disease definition
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
ORPHA:93284
Classification level: DisorderSummary
Epidemiology
The X-linked variant of the disease is most common, with an estimated prevalence of 1 in 150,000-200,000.
Clinical description
Patients may have normal body proportions at birth. The condition typically manifests around puberty with a short neck, scoliosis or thoracic kyphosis, lumbar hyperlordosis, and early-onset progressive osteoarthritis of the hips and knees. Many patients achieve an adult height of more than 153 cm and true dwarfism may not be present. Radiographic findings appear prior to puberty and may include multiple epiphyseal abnormalities, flattened vertebral bodies, narrow disc spaces, hypoplastic odontoid process, short femoral neck, and coxa vara.
Etiology
The X-linked recessive type is caused by mutations in the TRAPPC2 gene (locus Xp22.2-p22.1).
Genetic counseling
SEDT may be transmitted as an X-linked recessive, autosomal recessive or autosomal dominant trait.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Detailed information
General public
- Article for general public
- Svenska (2022) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2023) - GeneReviews
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produced/endorsed by FSMR(s)Additional information