Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonyms: Shaheen syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance tooth enamel hypoplasia palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism including lateral flaring of the eyebrows broad nasal tip and thick vermilion border may also be observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
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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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.
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Our Odyssey Inc.
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Patient Advocate Foundation
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Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
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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.
For a list of clinical trials in this disease area, please click here.