Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

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Disease Ontology 12 DOID:0080362 OMIM 56 313400 KEGG 36 H00760 ICD10 via Orphanet 33 Q77.7

Orphanet 58 ORPHA93284 MedGen 41 C0220776 C3541456 SNOMED-CT via HPO 68 111266001 239872002 24228002 246957002 249670005 414564002 57676002 64217002 74820003 95427009 more UMLS 71 C0038015 C3541456

Genetics Home Reference : ²⁵ X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10. Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height. Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, X-Linked, also known as spondyloepiphyseal dysplasia tarda, is related to arthropathy, progressive pseudorheumatoid, of childhood and spondyloepiphyseal dysplasia congenita, and has symptoms including arthralgia An important gene associated with Spondyloepiphyseal Dysplasia Tarda, X-Linked is TRAPPC2 (Trafficking Protein Particle Complex 2), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include bone, heart and liver, and related phenotypes are abnormality of epiphysis morphology and arthralgia

Disease Ontology : ¹² A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22.

NIH Rare Diseases : ⁵² X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis , especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis , and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.

KEGG : ³⁶ X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.

UniProtKB/Swiss-Prot : ⁷³ Spondyloepiphyseal dysplasia tarda: X-linked recessive disorder of endochondral bone formation.

More information from OMIM: 313400

GeneReviews: NBK1145

Clinical features from OMIM:

313400

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