Cardiovascular risk factors and body composition in adults with achondroplasia
2020-11-19Medicine
Svein Fredwall, MD, Ph.D., expert working on TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, in Norway, has been publishing relevant research in Skeletal Dysplasia, in particular, on the effects and impact achondroplasia has on adults. This article data is based on the ongoing project 'The Norwegian Adult Achondroplasia Study'.
Disability
2019-03-13Health Guide
Achondroplasia is associated to some restrictions or limitations in certain activities. Orphanet has published a page dedicated to what limitations a person with achondroplasia may experience, organizing them by how frequently these limitations are present in this population, classifying them in terms of temporality (if they are permanent or transient) and severity.
Growth Monitoring
2017-05-15Health Guide
One of the most well-known guidelines for children with achondroplasia was published in 2005 in the American Academy of Pediatrics Journal by Trotter T and Hall J. The full document advises pediatricians on how counsel parents of children with achondroplasia, how to prevent complications, and, most importantly, how to monitor their health while they are growing. To achieve this we present Growth Charts for children with achondroplasia in this page, however, new growth charts must be developed.
Medical exams/tests
2017-08-21Beyond Achodroplasia
This page describes what medical exams and tests must be performed by the paediatrician at what ages, providing a timetable for the management of achondroplasia.
Nutritional Guide
2017-08-10Nutritional guide
Obesity is a common problem among people with this condition that can lead to or exacerbate a series of other complications associated with the disease. For this reason we present a Nutritional Guide for people with achondroplasia designed for nutritional counseling and based on a thesis by Dr. Katheryn Lamb.
Possible Complications
2017-08-25Health Guide
Many complications may arise from achondroplasia. Here you will find a compilation of possible complications in achondroplasia, divided by age group.
Reproduction and Pregnancy
2019-03-13Health Guide
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia
This report, conducted by 13 multidisciplinary international experts intends to outline the best practices in prenatal evaluation and delivery of patients with skeletal dysplasia.
Depending on inheritance characteristics, adults with skeletal dysplasia may pass the trait on to their offspring, requiring special precautions. In addition, pregnant women with skeletal dysplasia m […]