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X-Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked SEDT


Presentation

  • This mutation was present in the proband and his unaffected mother (a heterozygote), but not in an unaffected sister and an unaffected uncle.[ncbi.nlm.nih.gov]
Short Stature
  • Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis.[ncbi.nlm.nih.gov]
  • A 14-yr-old Korean male was referred for evaluation of short stature. Upon examination, his height was 147.8 cm (10-25 percentile) and he was 39 kg in weight (10-25 percentile). Short stature was noted in late childhood.[synapse.koreamed.org]
Barrel Chest
  • The X-linked recessive form (SEDL) affects men and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity.[ncbi.nlm.nih.gov]
  • Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis , especially in the hip joints.[monarchinitiative.org]
Heart Failure
  • failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual[se-atlas.de]
Back Pain
  • Spondyloepiphyseal dysplasia tarda is a genetically heterogeneous disorder that frequently manifests itself with back pain starting around puberty.[ncbi.nlm.nih.gov]
  • 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.[ghr.nlm.nih.gov]
  • All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes.[unboundmedicine.com]
Trunk Shortness
  • A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic radiological features of the spine (posterior hump, end plate sclerosis[ncbi.nlm.nih.gov]
  • A common presenting feature of X-linked SEDT is a disproportionate (short trunk) short stature due to platyspondyly, commonly described as being "barrel-chested".[synapse.koreamed.org]
Short Arm
  • We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome.[ncbi.nlm.nih.gov]
  • We propose, that the SEDL locus lies on the distal part of the short arm of the X chromosome. Keywords Internal Medicine Metabolic Disease Genetic Marker Distal Part Linkage Study These keywords were added by machine and not by the authors.[springerlink.com]
  • Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum. Genet. 81, 61–63 (1988). 9 Heuertz, S. et al. The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.[doi.org]
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered.[rarediseases.org]
  • Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 1988;81:61–63. 7. Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, et al.[synapse.koreamed.org]
Chest Deformity
  • The X-linked recessive form (SEDL) affects men and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity.[ncbi.nlm.nih.gov]
Arthralgia
  • These women seem to be troubled frequently by arthralgia by middle age.[ncbi.nlm.nih.gov]
  • Source MeSH Adult Arthralgia Back Pain Female Humans Male Osteochondrodysplasias Pedigree Republic of Korea Young Adult Pub Type(s) Case Reports Language eng PubMed ID 27401665 Citation Chung, Sang Wan, et al.[unboundmedicine.com]
Confusion
  • To report the typical radiologic presentation of patients with X-linked spondyloepiphyseal dysplasia tarda and the diagnostic tool of mutation screening for that disease in order to avoid confusion with similar occurrences.[ncbi.nlm.nih.gov]
  • In the adult, the vertebral changes are diagnostic, but in early adolescence, radiographic findings may be confused with other diseases including mild Morquio's disease, multiple epiphyseal dysplasias with vertebral changes, and adolescent kyphosis [[synapse.koreamed.org]
  • Radiographically these dysplasias may be confused with Legg Calve Perthes disease.[ijri.org]
  • In this context, “model” means current molecular/cellular concepts of how the disease arises, not to be confused with an “animal disease model”, which is an experimental system that replicates a human disease.[nanopdf.com]

Treatment

  • OBJECTIVE: To further investigate the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL) and provide useful information for the prevention and treatment of the disease.[ncbi.nlm.nih.gov]
  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]

Prognosis

  • Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.[ncbi.nlm.nih.gov]
  • […] between ages 5-10 because of impaired spinal growth; cervical myelopathic sxs, most with scoliosis or kyphosis RADIOGRAPHIC: platyspondyly with delay in spinal ossification centers; atlantoaxial instability (40%)(may be present at infancy) PATHOLOGY: PROGNOSIS[orthopaedicsone.com]
  • Ellis-van Creveld Source/Author: Charles Scott & the Nemours Skeletal Dysplasia team Medical Review Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.[lpamrs.memberclicks.net]
  • Because of its evolution and good prognosis, treatment has not been determined necessary for these patients. X-ray control is recommended to assess the resolution of the pathology.[colombiamedica.univalle.edu.co]

Etiology

  • The results of our study expand the spectrum of SEDLIN mutations associated with SEDT, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia.[ncbi.nlm.nih.gov]
  • Extensive updates offer you the latest knowledge on etiology, imaging, differential diagnosis, and non-operative and surgical techniques for a wide range of pediatric orthopaedic conditions. "... delivers the most comprehensive text on this subject."[books.google.de]
  • Discussion HED etiology remains unknown and the authors found no references of malignant transformation in the literature.[zdoc.site]

Epidemiology

  • Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics[orthobullets.com]
  • Epidemiologically, it has been determined that this condition involves boys in greater proportion than girls in a ratio of 5:1 and in those under 5 years of age 1 , 4 .[colombiamedica.univalle.edu.co]
  • Epidemiology International statistics SED congenita is a rare genetic disorder. The prevalence is approximately 3.4 per million population. [7] The incidence rate is approximately 1 per 100,000 live births.[emedicine.medscape.com]
  • Introduction - this section should include information about the clinical symptoms of the disease and any known epidemiology or related statistics. The purpose here is to tell us, in general terms, about the impact of the disease.[nanopdf.com]
Sex distribution
Age distribution

Pathophysiology

  • Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics[orthobullets.com]
  • Spranger and Langer provided a further review of 29 patients in 1970. [2] In 1969, Fraser noted the particular association of SED with myopia, retinal detachment, and deafness. [3] In 1939, Jacobsen recognized SED tarda in a report of 20 patients. [4] Pathophysiology[emedicine.medscape.com]

Prevention

  • OBJECTIVE: To further investigate the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL) and provide useful information for the prevention and treatment of the disease.[ncbi.nlm.nih.gov]
  • Milwaukee brace with kyphosis pads was successful in preventing progression of thoracic kyphosis in one study. [34] When the deformity progresses in spite of nonsurgical management, surgical fusion is required to prevent spinal cord compression and spastic[emedicine.medscape.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] X-linked spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males[icdlist.com]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.[ghr.nlm.nih.gov]
  • Prevention of fixed, angular kyphosis in achondroplasia. Source/Author: Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA.[lpamrs.memberclicks.net]

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