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]

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]

[…] 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]

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

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]

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]

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]

[…] 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]

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

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]

[…] 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]

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]