Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. [orpha.net]

From Wikipedia, the free encyclopedia Jump to navigation Jump to search Neurofibromatosis type 3 Specialty Neurosurgery Neurofibromatosis type 3 (also known as "Neurofibromatosis mixed type") resembles von Recklinghausen's disease, but also presents with [en.wikipedia.org]

In the present study, we identified only a few NF1 patients who presented below average birth weight and length. [omicsonline.org]

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]

Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. [rarediseases.info.nih.gov]

Treatment - Neurofibromatosis type 3 Neurofibromatosis has no specific treatment. Management consists of surgical removal of intracerebral or intraspinal tumors (when possible) and correction of kyphoscoliosis. [checkorphan.org]

[…] genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment [books.google.de]

Diagnosis - Neurofibromatosis type 3 These home medical tests may be relevant to Neurofibromatosis type 3A: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests Prognosis - Neurofibromatosis type 3 Not [checkorphan.org]

However, any person with NF1 and high blood pressure must be evaluated carefully for 2 alternative causes of hypertension (see Prognosis). Pheochromocytomas are not rare ( 5%) in NF1 and can cause severe, fluctuating hypertension. [emedicine.medscape.com]

Although prognosis is very variable, overall life expectancy is approximately half that of non affected individuals. Tumors or cardiovascular complications are the most common causes of mortality 8. pediatric mediastinal masses [radiopaedia.org]

The subtype characterized by high rates of MYCN amplification showed the poorest prognosis, while the subtype characterized by TERT promoter mutations and EGFR amplification showed the most favorable prognosis. [cancer.gov]

Jump to navigation Jump to search Neurofibromatosis Type 1 Genetic Etiology [ edit ] Mode of inheritance: Autosomal dominant 50% of cases represent a new mutation Chromosome location: The gene for NF1 is located at chromosome 17q11.2 The gene is very [en.wikibooks.org]

Etiology congenital os odontoideum Down syndrome (20%) Morquio syndrome spondyloepiphyseal dysplasia osteogenesis imperfecta Marfan disease neurofibromatosis type 1 (NF1) arthritides rheumatoid arthritis psoriatic arthritis Reiter syndrome (reactive arthritis [radiopaedia.org]

Common etiologies for hydrocephalus were aqueductal/tectal tumor (31%), aqueductal web (26%), and aqueductal stenosis owing to NF-related changes (14%). Ten patients had a preoperative diagnosis of optic pathway glioma. [hopecenter.wustl.edu]

Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008;71:312-321. Lek M, Quinlan K, North KN. The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric a-actinins. [mcri.edu.au]

Etiology. Due to cerebral tumors, cortical malformation, mesial temporal sclerosis. Therapy. Drug therapy (57% amenable) where not resistant (29%). [en.wikipedia.org]

Updated Molecular and Epidemiologic diagrams added to all new chapters. [books.google.com]

Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Zoller M, Rembeck B, Akesson HO, Angervall L: Live expectancy, mortality and prognostic factors in neurofibromatosis type 1: A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol (Stockh) 1995;75:136–140. [karger.com]

Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999;89:1-6. 2. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist 2000;5:477-85. 3. Broekman ML, Risselada R, Engelen-Lee J, Spliet WG, Verweij BH. [indianjcancer.com]

Key words Neurofibromatosis 1 diagnosis epidemiology etiology therapy; Genes, Neurofibromatosis 1; Signs and Symptoms;Disease Progression; Café-au-lait spots eurofibromatosis type I (NF1), von Recklinghausen's disease, is an autosomal dominant neurological [deepdyve.com]

Pathophysiology of neurofibromatosis type 1. Ann Intern Med. 2006 Jun 6;144(11):842-9. Review. Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006 Mar;13(1):2-7. Review. Ward BA, Gutmann DH. [ghr.nlm.nih.gov]

Prevention - Neurofibromatosis type 3 Not supplied. [checkorphan.org]

[…] includes treating the symptoms as they occur Learning difficulties: appropriate school placement, IEP Dermal neurofibromas: surgically remove if they are symptomatic Early recognition of long bone bowing can be accompanied with braces (which may help prevent [en.wikibooks.org]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

However, the lack of pigment in the irises prevents them from completely blocking light from entering the eye, so a person with albinism may appear to have red eyes in some lighting. [verywell.com]

Although bracing will not straighten scoliosis curves, it may slow the progress of the curves or prevent them from getting worse. Spinal fusion. To treat severe scoliosis caused by NF1, a doctor may recommend surgery. [orthoinfo.aaos.org]