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85 Possible Causes for Postural Defect, Skeletal Dysplasia

  • Cleidocranial Dysplasia

    In this context, disturbed development of vertebrae, poor posture due to abnormal curvature of the spine as well as syringomyelia have been described.[symptoma.com] Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[web.archive.org] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[ncbi.nlm.nih.gov]

  • Skeletal Dysplasia

    Spine deformation may result in abnormal posture, but also in paraparesis or quadriparesis.[symptoma.com] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[doi.org] Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[emedicine.com]

  • Primary Optic Atrophy

    Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness.[merckmanuals.com]

  • Noonan Syndrome

    Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[mayomedicallaboratories.com] Taybi H (1990) Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd edn. Year Book, Chicago, pp 337–338 Google Scholar 14.[doi.org] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org]

  • Hyporeninemic Hypoaldosteronism

    Symptoms and Signs Symptoms of hypoaldosteronism include anorexia, asthenia, weight loss, hyperpigmentation and postural hypotension.[medigest.uk] Isolated defects of aldosterone biosynthesis are rare, but partial defects are an aspect of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.[enotes.tripod.com] Causes The main causes of hypoaldosteronism are hyporeninemic hypoaldosteronism, primary adrenal insufficiency or an adrenal enzyme defect and pseudohypoaldosteronism, a rare[medigest.uk]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    […] muscle atrophy Alpha-1-antitrypsin deficiency Alpha-crystallinopathy Anaplastic ependymoma Aniridia - cerebellar ataxia - intellectual deficit Athyreosis Atrial septal defect[csbg.cnb.csic.es] Although the number of individuals observed is small, the high incidence of cervical spine deformation in SMMD is unique among skeletal dysplasias.[ncbi.nlm.nih.gov] Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck[ncbi.nlm.nih.gov]

  • Scoliosis

    The Schroth method has been shown to positively influence the Cobb angle, vital capacity, strength and postural defects in AIS [ 31 ].[doi.org] Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing[ncbi.nlm.nih.gov] Marfan disease ) neurofibromatosis type 1 skeletal dysplasias (e.g. achondroplasia ) neuromuscular scoliosis Chiari malformations cerebral palsy diastematomyelia muscular[radiopaedia.org]

  • Craniodiaphyseal Dysplasia

    In some cases, a postural defect in the metaphyses may also be noted.[primehealthchannel.com] European skeletal dysplasia network (ESDN). 2003-2010. www.esdn.org (accessed April 16, 2015). International skeletal dysplasia society (ISDS). 2004-2015. www.isds.ch.[karger.com] defect in the metaphyses Some of the complications of CDD are severe facial deformity, facial diplegia, complete hearing inability, nasolacrimal obstruction, quadriparesis[ehealthhall.com]

  • Spondylolisthesis

    A defect in pars interarticularis leads to this form. Hyperextended posture is the common cause.[symptoma.com] In a skeletally immature patient, the lumbosacral kyphosis has been suggested to be the most useful predictor of progression.[boneandspine.com] Spondylolisthesis is common in athletes and gymnasts as a result of hyperextended postures.[symptoma.com]

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