The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Susanne Grässel, Attila Aszódi Springer, ٢٥‏/٠١‏/٢٠١٧ - 261 من الصفحات In three Volumes this mini book series presents current knowledge and new perspectives on cartilage as a specialized yet versatile tissue. [books.google.com]

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]

This syndrome also presents a clinical variability. [intechopen.com]

• Short Stature

  stature Short stature Source: GTR (NCBI/NIH) 1 • • • Back to: « Spondyloepiphyseal dysplasia, kimberley type Back to: « Spondyloepiphyseal dysplasia • • • Symptoms and clinical features of the condition may include: 2 Clinical Features of Spondyloepiphyseal [familydiagnosis.com]

  Disease definition Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. [orpha.net]

  Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. [ncbi.nlm.nih.gov]

  Skip to content spondyloepiphyseal dysplasia—Kimberley type Joe Segen 2016-11-28T06:11:26 00:00 ORTHOPAEDICS Definition A n autosomal dominant form (OMIM:608361) of spondyloepiphyseal dysplasia * characterised by proportionate short stature ( 5th percentile [newmedicalterms.com]

• Proportionate Short Stature

  3 Clinical Features of Spondyloepiphyseal dysplasia, Kimberley type : Platyspondyly Spondyloepiphyseal dysplasia Osteoarthritis Micromelia Proportionate short stature Abnormality of epiphysis morphology Short thorax Symptoms Read more about symptoms [familydiagnosis.com]

  Skip to content spondyloepiphyseal dysplasia—Kimberley type Joe Segen 2016-11-28T06:11:26 00:00 ORTHOPAEDICS Definition A n autosomal dominant form (OMIM:608361) of spondyloepiphyseal dysplasia * characterised by proportionate short stature ( 5th percentile [newmedicalterms.com]

  Clinical description The main clinical features may include proportionate short stature ( Etiology SEDK is caused by mutation in the aggrecan gene ( AGC1, locus 15q26.1). Genetic counseling SEDK is transmitted as an autosomal dominant trait. [orpha.net]

  The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. [ncbi.nlm.nih.gov]

• Dysostosis

  […] prevalence: Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - No MeSH references Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis [csbg.cnb.csic.es]

  Hereditary Rickets Section XIX Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis multiplex) 132. [amazon.it]

  Hereditary Rickets ; Section XIX Lysosomal Storage Diseases with Skeletal Involvement ; (Dysostosis multiplex) ; 132. [bookdepository.com]

• Multiple Congenital Anomalies

  Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes page for X-linked SMD. [ksginfo.org]

• Heart Disease

  Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.com]

• Skeletal Dysplasia

  dysplasia (85.0% **) ** % of the coding region of this gene has a coverage of 20x. [order.radboudumc.nl]

  dysplasia - Epiphyseal anomaly - Osteoarthritis - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism [csbg.cnb.csic.es]

  Skeletal dysplasia without identified molecular bases is also identified. In the following section, the most common and molecularly well‐characterized skeletal dysplasia are presented. 2.1.1. [intechopen.com]

  Skeletal Dysplasia Clinics Skeletal Dysplasia Clinic in Akron, Ohio: . There are a few short biographies of some of the patients who are part of the clinic. [ksginfo.org]

  For more information, physicians can contact: International Skeletal Dysplasia Registry UCLA 615 Charles E. [rarediseases.org]

• Platyspondyly

  Bowing of the legs Flat capital femoral epiphysis Abnormality of the skeletal system Abnormality of epiphysis morphology Bowing of the legs Delayed skeletal maturation Flat capital femoral epiphysis Osteoarthritis susceptibility 1 Osteochondrodysplasia Platyspondyly [familydiagnosis.com]

  Name Spondyloepiphyseal Dysplasia, Kimberley Type Synonyms - Classification bone, developmental, genetic Phenotypes Autosomal dominant inheritance ; Delayed skeletal maturation ; Flat capital femoral epiphysis ; Genu valgum ; Genu varum ; Platyspondyly [mousephenotype.org]

  Abnormalities of other epiphysis, platyspondyly and narrowed disc spaces of spine help to establish the correct diagnosis [8]. [ijri.org]

  The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. [pathwaycommons.org]

  The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. {ECO:0000269 PubMed:19110214}. [genecards.org]

• Genu Valgum

  […] dysplasia • • • Symptoms and clinical features of the condition may include: 2 Clinical Features of Spondyloepiphyseal Dysplasia, Kimberley Type : Autosomal dominant inheritance Platyspondyly Spondyloepiphyseal dysplasia Delayed skeletal maturation Genu [familydiagnosis.com]

  Name Spondyloepiphyseal Dysplasia, Kimberley Type Synonyms - Classification bone, developmental, genetic Phenotypes Autosomal dominant inheritance ; Delayed skeletal maturation ; Flat capital femoral epiphysis ; Genu valgum ; Genu varum ; Platyspondyly [mousephenotype.org]

  Related symptoms: Short stature Gait disturbance Arthralgia Genu valgum Micromelia SOURCES: ORPHANET More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY Medium match HYPOCHONDROPLASIA Hypochondroplasia is characterized by disproportionate [mendelian.co]

  Even if the skeletal impairment is generalized, the bones of inferior limbs are more frequently involved, being often observed an angular deformation at this level, such as coxa vara, genu varum, genu valgum and valgum deformities at the distal tibia. [intechopen.com]

  Joint abnormalities may lead to the development of hip deformity in which the thigh bone is angled toward the center of the body (coxa vara) and/or knee deformities, including bow legs (genu varum) and ‘knock knees’ (genu valgum). [rarediseases.org]

• Anterior Knee Pain

  David.Osteochondritis dissecans (OCD) should be considered in young, active patients who have generalized or anterior knee pain. [wovysonatecygosum.xpg.uol.com.br]

• Wrist Pain

  AU - Van Den Ende,Kimberly.Concise Review With Video Illustration Osteochondritis Dissecans of the Capitellum: A Review of the Literature and a Distal Ulnar Portal Kimberly.Osteonecrosis and Osteochondrosis. male presenting with wrist pain and successfully [wovysonatecygosum.xpg.uol.com.br]

• Withdrawn

  […] developmental, genetic Phenotypes Autosomal dominant inheritance ; Delayed skeletal maturation ; Flat capital femoral epiphysis ; Genu valgum ; Genu varum ; Platyspondyly ; Proportionate short stature ; Spondyloepiphyseal dysplasia Associated Genes ACAN (Withdrawn [mousephenotype.org]

Clinical Testing and Workup Basic x-rays (radiography) can be used to provide a thorough, careful examination of the entire bone system (complete skeletal survey) in order to detect changes in the skeleton that are characteristic of SEDC. [rarediseases.org]

• Delayed Bone Age

  One of them showed small and irregular ulnar epiphyses with delayed bone age. These findings are summed up in [Table - 2]. [ijri.org]

  The patients often present a delayed bone age and low levels of IGF1. [intechopen.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.com]

Treatment [ edit ] Treatment for SEDc varies because the condition affects several body systems, and each child’s case is different. Some children will only require careful monitoring. [en.wikipedia.org]

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]

An adequate genetic evaluation usually facilitates decisions about therapeutic intervention and gives clues about the prognosis. 2. Genetic disorders with primary effect on growth 2.1. [intechopen.com]

Clinical description The main clinical features may include proportionate short stature ( Etiology SEDK is caused by mutation in the aggrecan gene ( AGC1, locus 15q26.1). Genetic counseling SEDK is transmitted as an autosomal dominant trait. [orpha.net]

Disorder of glycolysis Orphanet_308459 Disorder of carbohydrate metabolism Orphanet_79161 Rhizomelic chondrodysplasia punctata type 1 Orphanet_309789 etiological subtype Orphanet_377795 [Subdivision of a disease, malformation syndrome, morphological anomaly [ebi.ac.uk]

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]

Their diagnosis is often difficult, thus, knowledge of the main clinical signs of each syndrome and the algorithm for clinical diagnosis and genetic testing will practically lead to an easier clinical and etiologic diagnosis. [intechopen.com]

Summary Epidemiology It has been described in one multigenerational South African family of English white descent. [orpha.net]

[…] bullosa Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for ACAN Genetic Association Database (GAD) ACAN Human Genome Epidemiology (HuGE) Navigator ACAN Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACAN No data available for Genatlas for ACAN Gene Complete coding [genecards.org]

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]

[…] in Cartilage Physiology and Pathophysiology 190 Intervertebral Disc Degeneration 229 حقوق النشر حول المؤلف (2017) Editors: Prof. [books.google.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]

Regular eye (ophthalmologic) exams are required to detect and assess nearsightedness and to prevent retinal detachment. Retinal detachment can be repaired surgically. [rarediseases.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. [ citation needed ] Spondyloepiphyseal dysplasia congenita is inherited [en.wikipedia.org]

A Ponseti Bar with fitted shoes held her feet in alignment to help prevent them from tightening. "Some day she will walk," Nina said. [postcrescent.com]