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X-Linked Spondyloepimetaphyseal Dysplasia

X-Linked SEMD


Presentation

  • The hands show radial deviation and brachydactyly is present in the hands and feet. This X linked SEMD was not detectable at birth.[ncbi.nlm.nih.gov]
  • This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • Acronym SEMDX Synonyms SEMD, X-linked Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • In the present series the most common type of presentation was back ache (3 patients), gait abnormalities(2 patients) and pain in the hip and difficulty in walking( 1 patient).One patient only came with primary complaint of short stature, eventhough physical[ijri.org]
Italian
  • An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern.[ncbi.nlm.nih.gov]
Short Finger
  • Someone with this condition will have short fingers and toes. It also causes the brain to have growth and development problems. SEMD, X-linked, with mental deterioration is passed down from parents to their children through genes.[diseaseinfosearch.org]
  • Showing of 37 Percent of people who have these symptoms is not available through HPO Anterior wedging of T11 0004573 Anterior wedging of T12 0011940 Brachydactyly Short fingers or toes 0001156 Broad long bone diaphyses Broad shaft of long bone Wide shaft[rarediseases.info.nih.gov]
Platyspondyly
  • There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. The 11th or 12th thoracic vertebra is wedge shaped. The pelvis is narrow.[ncbi.nlm.nih.gov]
  • Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.Visit the Orphanet disease page for more resources.[malacards.org]
  • Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.[uniprot.org]
  • Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.[rarediseases.info.nih.gov]
Brachydactyly
  • The hands show radial deviation and brachydactyly is present in the hands and feet. This X linked SEMD was not detectable at birth.[ncbi.nlm.nih.gov]
  • […] and orphan drugs.Orpha Number: 93349Disease definitionX-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly[malacards.org]
  • Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.[uniprot.org]
  • Orpha Number: 93349 Disease definition X-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly,[rarediseases.info.nih.gov]
Coxa Valga
  • valga 0002673 Delayed ossification of carpal bones 0001216 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flared iliac wings 0002869[rarediseases.info.nih.gov]
  • The main radiographic features included congenital platyspondyly with coronal clefts, severe metaphyseal changes (especially hands, wrists, and knees), mesomelic limb shortening, and coxa valga.[olivialugani.com]
  • The characteristic features of mucopoly sacharidosis like joint laxity in particular of the atlantoaxial region, coxa valga, corneal clouding, cardiac and visceral involvement, and mucopolysaccariduria helps to exclude this consition from other dysplasias[ijri.org]
Coxa Valga
  • valga 0002673 Delayed ossification of carpal bones 0001216 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flared iliac wings 0002869[rarediseases.info.nih.gov]
  • The main radiographic features included congenital platyspondyly with coronal clefts, severe metaphyseal changes (especially hands, wrists, and knees), mesomelic limb shortening, and coxa valga.[olivialugani.com]
  • The characteristic features of mucopoly sacharidosis like joint laxity in particular of the atlantoaxial region, coxa valga, corneal clouding, cardiac and visceral involvement, and mucopolysaccariduria helps to exclude this consition from other dysplasias[ijri.org]
Lower Extremity Shortness
  • Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.[uniprot.org]
  • extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.[malacards.org]
Distractibility
  • The book outlines the biology of: bone repair with differing mechanical environments; cartilage repair at articular and physeal sites; and distraction osteogenesis.[books.google.com]
  • Operative posterior atlantoaxial fusion indications atlantoaxial instability measuring 8 mm or more myelopathy techniques posterior instrumentation posterior thoracolumbar instrumentation indications spinal scoliosis curvatures 50 degrees techniques distraction[orthobullets.com]
Waddling Gait
  • gait Causes - Spondylometaphyseal dysplasia- X-linked * Breathing problems * Coarse facial appearance * Flat nose bridge * Flattened vertebrae * Mental retardation * Short stature * Speech impairment * Strabismus * Waddling gait * Wide-set eyes Prevention[checkorphan.org]
  • gait Imaging Radiographs recommended views AP, lateral, open mouth views of cervical spine AP, lateral views of thoracolumbar spine AP, lateral views of hips alternative views flexion-extension views of cervical, thoracolumbar spine findings cervical[orthobullets.com]
  • Patients had short-trunk dwarfism, short neck, spinal and limbs deformities, coxa vara, genu valgum, waddling gait and various joint diseases, especially loss of complete bone formation of femoral head.[journals.plos.org]
Mental Deterioration
  • Spondyloepimetaphyseal dysplasia, bieganski type Semd, x-linked, with mental deterioration Spondyloepimetaphyseal dysplasia (SEMD), X-linked, with mental deterioration is a very rare condition that begins in infancy or early childhood.[diseaseinfosearch.org]
  • MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, also known as spondyloepimetaphyseal dysplasia x-linked, is related to spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration and spondyloepimetaphyseal dysplasia, matrilin[malacards.org]

Workup

Shortened Long Bone
  • long bone of hand 0010049 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Spondyloepimetaphyseal dysplasia 0002651 X-linked recessive inheritance 0001419 Showing of 37 Last updated: 5/1/2019 If you need medical advice, you can look[rarediseases.info.nih.gov]

Treatment

  • Treatments are related to extent of deformity, remodeling post-surgery and possible recurrence. This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
  • If you or a family member has been diagnosed with SEMDX, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.[resourcerepository.org]

Prognosis

  • Prognosis - Spondylometaphyseal dysplasia- X-linked Not supplied. Treatment - Spondylometaphyseal dysplasia- X-linked Not supplied. Resources - Spondylometaphyseal dysplasia- X-linked Not supplied.[checkorphan.org]
  • Prognosis Prognosis is variable dependent upon severity of the disorder. Generally, congenital spondyloepiphyseal dysplasia is more symptomatic than spondyloepiphyseal dysplasia tarda.[encyclopedia.com]
  • Prognosis SED is nonlethal, and life expectancy is not reduced. However, morbidity is increased, and regular monitoring and follow-up care should be encouraged.[emedicine.medscape.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Bailey suggested two groups in addition to SED congenita and SED tarda: pseudo-Morquio disease and pseudoachondroplasia SED. [9] In this article, only the most common types of SED (ie, SED congenita and SED tarda) are discussed in detail. [10] Etiology[emedicine.medscape.com]
  • 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.[academic.oup.com]

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]
  • 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]
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

  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[codelay.com]
  • Waddling gait Causes - Spondylometaphyseal dysplasia- X-linked * Breathing problems * Coarse facial appearance * Flat nose bridge * Flattened vertebrae * Mental retardation * Short stature * Speech impairment * Strabismus * Waddling gait * Wide-set eyes Prevention[checkorphan.org]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.[ipfs.io]
  • 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]
  • These changes, called mutations, prevent people from functioning like they are supposed to. A mutated gene can come from an affected parent or a parent carrier (unaffected).[aqppt.org]

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