Characterized by diminished sweating.
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The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich's ataxia-just a few of the more than 1000 genetic disorders that are well-described and many more that are not.
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
According to The Macomb Daily, Binion has hypohidrotic ectodermal dysplasia, which is characterized by a reduced ability to sweat, sparse hair growth, missing teeth and facial deformities.
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly.
June 24, 2014 /PRNewswire-USNewswire/ -- InformedDNA announced today a strategic new collaboration with Edimer Pharmaceuticals to address a critical research need for patients with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disorder.
CAMBRIDGE, Massachusetts and BOTHELL, Washington, September 9, 2010 /PRNewswire/ -- Edimer Pharmaceuticals and CMC Biologics today announce the execution of a manufacturing contract to support the development of EDI200, a clinical-stage recombinant protein for the treatment of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disease with orphan designation in the USA and Europe.
Clinical and radiographic findings in X linked hypohidrotic ectodermal dysplasia.
The earliest type of ED to be recognized in the world's literature was hypohidrotic ectodermal dysplasia (HED).
This nail morphology has been described in single case reports of patients with Ehlers-Danlos syndrome, hypohidrotic ectodermal dysplasia, and Marfan syndrome.
Going back through the generations of her family, she looks at the effect of hypohidrotic ectodermal dysplasia (HED) on her grandfather Earl, and her mother's emotional pain witnessing her father Earl's misery.
There are a number of syndromes that must be considered within the differential diagnosis of clinical symptoms described in this patient, including Rapp-Hodgkin syndrome, Rosselli-Gulienetti syndrome, Hay-Wells syndrome, Bowen-Armstrong syndrome, Goltz-Gorlin syndrome, Odontotrichomelic hypohidrotic dysplasia, ADULT-syndrome, EEM syndrome, ODD syndrome, ECP syndrome, Roberts syndrome, Herrmann syndrome, and syndrome of Fontaine.
A recombinant protein to treat X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disorder that can be life-threatening