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Menkes disease | About the Disease | GARD - Genetic and Rare Diseases . . . Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow growth (failure to thrive); and seizures Additional features may
Enfermedad de Menkes | Sobre la enfermedad | GARD La enfermedad de Menkes es un trastorno que afecta a los niveles de cobre en el cuerpo Se caracteriza por cabello ralo y ensortijado; retraso del crecimiento; y deterioro progresivo del sistema nervioso Otras señales y síntomas pueden incluir tono muscular reducido (hipotonía), flacidez facial, convulsiones, retraso en el desarrollo, y discapacidad intelectual Los niños con el síndrome
Pili torti | About the Disease | GARD - Genetic and Rare Diseases . . . Pili torti is a rare hair condition characterized by fragile hair In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired In the inherited form, symptoms tend to be present from early childhood It can occur alone or as part of other diseases
Diseases | GARD DiseasesBrowse by Disease Explore GARD's list of rare diseases Filter by category or search by disease name, acronym, or synonym Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH
Cutis laxa, X-linked | About the Disease | GARD Cutis laxa, X-linked is caused by genetic mutations, also known as pathogenic variants Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these Learn more
Síndrome de Hennekam | Sobre la enfermedad | GARD El síndrome de Hennekam es una enfermedad hereditaria que resulta de malformación del sistema linfático que está compuesto por una red de vasos que transportan un líquido llamado linfa en todo el cuerpo La linfa contiene glóbulos blancos que protegen el cuerpo contra los gérmenes El sistema linfático elimina la infección y mantiene el equilibrio de los líquidos del cuerpo Si no