Get the latest public health information from CDC:This table lists symptoms that people with this disease may have. This information comes from a database called the.If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. If you do not want your question posted, please let us know.How can I learn about research opportunities at the National Institutes of Health (NIH) that are enrolling children with Proteus syndrome?If you have problems viewing PDF files, download the latest version of,Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311,Abnormal fat tissue distribution below the skin,Left and right leg differ in length or width,Swelling caused by excess lymph fluid under skin,Birth defect that causes a hole in the innermost layer at the back of the eye,Downward slanting of the opening between the eyelids,Formation of new noncancerous bone on top of existing bone,Conditions with similar signs and symptoms from Orphanet.Differential diagnoses include Klippel-Trenaunay-Weber syndrome, hemihypertrophy, Ollier disease, macrodactyly, Maffucci syndrome, CLOVE syndrome, neurofibromatosis type 1 and other PHTS disorders (see these terms).expand submenu for Find Diseases By Category,expand submenu for Patients, Families and Friends,expand submenu for Healthcare Professionals.You can help advance It is also known as Proteus Syndrome Foundation (psf ) Address Of Proteus Syndrome Foundation : Proteus Syndrome Foundation, C/o Kim Hoag, 4915 Dry Stone Drive, Colorado Springs, Co 80923.
Proteus syndrome is characterized by excessive growth of a part or portion of the body. Department of Health & Human Services,Caring for Your Patient with a Rare Disease,Preguntas Más Frecuentes Sobre Enfermedades Raras,Como Encontrar un Especialista en su Enfermedad,Consejos Para una Condición no Diagnosticada,Consejos Para Obtener Ayuda Financiera Para Una Enfermedad,Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos,Human Phenotype Ontology
NORD is a registered 501(c)(3) charity organization. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. There is no implied endorsement by NORD. rare disease research!Hemihypertrophy and macrocephaly; Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome.There are three general characteristics or features that must be present for doctors to consider a diagnosis of Proteus syndrome:Mosaic distribution: This means that the areas of overgrowth are patchy and that only some body parts show signs of overgrowth while others are unaffected.Sporadic occurrence: This means that no one else in the affected person’s family has similar features of overgrowth.Progressive course: This means that the overgrowth has noticeably altered the appearance of the affected body parts over time or that new areas of overgrowth have appeared over time.If a person has all three of these general characteristics in addition to some specific characteristics, doctors may consider a diagnosis of Proteus syndrome.The specific characteristics are grouped into three categories: A, B, and C. A diagnosis of Proteus syndrome requires all three general features to be present and either one feature from Category A, or two features from Category B, or three features from Category C:Patches of skin caused by an overgrowth of.Asymmetric, disproportionate overgrowth (at least one of the following):Hyperostosis of the external auditory canal,Parotid monomorphic adenoma (a benign tumor in s salivary gland).Abnormal growth and/or distribution of fat (dysregulated fatty tissue overgrowth) (either of the following):Lack of fat under the skin (regional lipohypoplasia),Vascular malformations (differences in the blood vessels, veins, or capillaries or vessels of the,Down slanting palpebral fissures and/or minor dropping of the eyelids (,placeholder for the horizontal scroll slider,Office of Rare Disease Research Facebook Page,Office of Rare Disease Research on Twitter,U.S. Contact a GARD Information Specialist.http://ghr.nlm.nih.gov/condition/proteus-syndrome,http://www.proteus-syndrome.org/newly-diagnosed.html,http://www.nature.com/ejhg/journal/v14/n11/pdf/5201638a.pdf,http://emedicine.medscape.com/article/948174,https://www.ncbi.nlm.nih.gov/books/NBK99495/.Do you know of a review article? We want to hear from you.Do you know of an organization?
The cause of the disorder is a mosaic variant in a gene called AKT1 .
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