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 April 2024
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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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