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]

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]

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

• Short Stature

  […] thorax Spondyloepiphyseal dysplasia congenita Growth abnormality Proportionate short stature Short stature Source: GTR (NCBI/NIH) 1 • • • Back to: « Spondyloepiphyseal dysplasia, kimberley type Back to: « Spondyloepiphyseal dysplasia • • • Symptoms and [familydiagnosis.com]

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

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  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]

• Proportionate Short Stature

  […] thorax Spondyloepiphyseal dysplasia congenita Growth abnormality Proportionate short stature Short stature Source: GTR (NCBI/NIH) 1 • • • Back to: « Spondyloepiphyseal dysplasia, kimberley type Back to: « Spondyloepiphyseal dysplasia • • • Symptoms and [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]

• Genu Valgum

  valgum Genu varum Flat capital femoral epiphysis Proportionate short stature • • • More clinical features may include: 3 Clinical Features of Spondyloepiphyseal dysplasia, Kimberley type : Platyspondyly Spondyloepiphyseal dysplasia Osteoarthritis Micromelia [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]

• 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]

• Short Neck

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [pathwaycommons.org]

  Ref.9Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [labome.com]

  Affected individuals may also have a disproportionately short neck. The head, hands and feet are average-sized. Final adult height usually ranges between 2.8 and 4.2 feet (84-128cm). [rarediseases.org]

  short stature Short femoral neck Enlarged joints Joint stiffness Short palm Rhizomelia Irregular vertebral endplates Intellectual disability Talipes equinovarus Spinal canal stenosis Disproportionate short stature Abnormality of femur morphology Childhood [mendelian.co]

• 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]

• Perseveration

  Where they truly differentiate themselves from other people is in their ability to persevere through difficult times, triumph over adversity and all the while, find enthusiasm with every challenge that comes their way. And they do it together. [bustle.com]

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

  Mounds of bone noted in the superior and posterior part of vertebral body were seen in three male patients. Femoral epiphyses were dysplastic in three patients. One of them showed small and irregular ulnar epiphyses with delayed bone age. [ijri.org]

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

• Hypoketotic Hypoglycemia

  hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.] [ebi.ac.uk]

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]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.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]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

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]