Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Synonyms: Ectodermal dysplasia-short stature syndrome | Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature nail dystrophy and/or nail loss oral mucosa and/or tongue hyperpigmentation dentition abnormalities (delayed teeth eruption hypodontia enamel hypoplasia) keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally dysphagia with esophageal strictures sensorineural deafness bronchial asthma and severe iron-deficiency anemia have been observed.
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Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version June 2023.
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National Foundation for Ectodermal Dysplasias
To empower and connect individuals touched by ectodermal dysplasias through education, support and research
Syndromes Without A Name (SWAN) Australia
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Center for Chronic Illness
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TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Our Odyssey Inc.
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Jamal’s Helping Hands
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Patient Advocate Foundation
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Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Life Branches NFP Inc
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Rare Disorders Kenya
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Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Indo US Organization for Rare Diseases (IndoUSrare)
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To The purpose of the group is to help break the stigma around male mental health and to encourage to take care of their emotional well being . It provides rare disease patients, caregivers with a safe space to talk about their experiences, get support and listen to other peoples stories . Having a rare disease comes with many added layers which can impact your life such as physical, medical, emotional, relationships and bereavement so it is important to talk about your emotional and mental well-being. Through awareness and education men have come together in this format and despite different rare conditions have found there is more on common with other men through connecting and supporting each other in this way .
Undiagnosed Diseases Network Foundation (UDNF)
The UDNF aims to end the diagnostic and therapeutic odyssey for all through the evolution and expansion of the Undiagnosed Diseases Network.
MarylandRARE (research, advocate, resource & education) is a diverse coalition of rare disease community stakeholders in Maryland. Brought together by lived experience, this coalition of rare disease patients and caregivers, are working to bridge the gap regarding understanding, information, and resources that lead to systemic change at the local, state, and federal levels of government.
Uplifting Athletes Inc.
Inspire the Rare Disease Community with hope through the power of sport.
Inspire Medical Communications, LCC
To advocate, raise awareness, and provide support for those with rare diseases through accurate, informative medical communications and research
For a list of clinical trials in this disease area, please click here.