In this book, the authors present current research from across the globe on Down syndrome. [bookdepository.com]

At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. [books.google.com]

Scimitar syndrome: A rare disease with unusual presentation. [lungindia.com]

Nystagmus may be present. Reduction or absence of rod responses on ERG can be used in young children to document the retinopathy. Blindness and deafness commonly occur in childhood. [disorders.eyes.arizona.edu]

Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. [uniprot.org]

and in some cases, due to treatment also. [dovemed.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

(Outcomes/Resolutions) The prognosis of Van Den Bosch Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Prognosis [ edit ] Currently, no cure for Zellweger syndrome is known, nor is a course of treatment made standard. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. [en.wikipedia.org]

Scimitar syndrome: Incidence, treatment and prognosis. Eur J Pediatr 2008;167:155-60. 13. Sinha R, Singh P, Bhatnagar AK, Batra A. Scimitar syndrome: Imaging by magnetic resonance angiography and Doppler echocardiography. [lungindia.com]

This has important implications regarding the diagnosis, prognosis and long-term follow up in these diseases. [siicsalud.com]

Although patients with mutations in core subunits have a significantly poorer prognosis than patients with mutations in noncore subunits, the variability in prognosis is extremely high. 7 With current genetic diagnostic technology, genetic mutations in [dovepress.com]

(Etiology) It is believed that Van Den Bosch Syndrome is caused by deletions on the X chromosome The disorder is inherited in an X-linked recessive manner X-linked recessive pattern of inheritance: The gene associated with this condition is located on [dovemed.com]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons. 36, 68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [dovepress.com]

As the diagnosis in the group of patients reported before 2010 was based on symptoms only, the disease in these patients may well result from a very diverse etiology. Since 2010, a much more defined group of patients has been reported. [ojrd.biomedcentral.com]

Clinical manifestation of prenatal exposure to valproic acid using reports and epidemiologic information. Am. J. Med. Genet. 37 (1990) 277–282. [link.springer.com]

MATERIALS AND METHODS The Orphanet Rare Disease Ontology (ORDO), derived from the Orphanet database ( www.orpha.net ), integrates information about rare (“orphan”) diseases, genes, epidemiology, and orphan drugs. 14, 15 ORDO defines semantic relationships [academic.oup.com]

[…] new chapter on sleep disorders whilst the chapters on Alzheimer's disease and related dementias, Epilepsy, Movement disorders and Traumatic brain injury have been extensively revised reflecting the greatly improved understanding of their underlying pathophysiologies [books.google.es]

However, since 2010 insights into the pathophysiology, genetics and treatment of this disorder have increased tremendously. [ojrd.biomedcentral.com]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [dovepress.com]

How can Van Den Bosch Syndrome be Prevented? Van Den Bosch Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Prevention of the main childhood disease, rotavirus-induced diarrhea, rests with the recently introduced vaccines. [asmscience.org]

Finally, insulinsensitizing drugs should be used as adjuvants to general lifestyle improvements (improved diet and increased exercise) to prevent these risks. [elsevier.es]

Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. [en.wikipedia.org]

Health care workers should be aware of the potential presence of this disease to prevent false accusations of child abuse. abuse anhidrosis congenital insensitivity to pain with anhidrosis (CIPA) hereditary sensory and autonomic neuropathy (HSAN) neuroimaging [pediatrics.aappublications.org]