Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype

Edimer Pharmaceuticals11 enrolled

Overview

This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). This study will allow Edimer Pharmaceuticals to know more about HED/XLHED so that hopefully the investigators can develop a drug to treat this condition. In this study Edimer will retrospectively review and abstract (summarize) medical records of people that have or may have HED/XLHED in order to further understand the natural history and disease characteristics.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hypohidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: -Males or females with: 1. the clinical characteristics of HED, including at least two of the following characteristics: a history of decreased sweating;abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);sparseness of scalp and body hair. -OR- 2. genetically confirmed HED or XLHED;

Locations (1)

Edimer Pharmaceuticals