ectodermal dysplasia

Introduction

heterogeneous group of developmental disorders affecting tissues of ectodermal origin

Pathology

• abnormal development of two or more ectodermal structures such as hair, teeth, nails & sweat glands, with or without any additional clinical sign
• each combination of clinical features represents a different type of ectodermal dysplasia

Genetics

• associated with defects in EDAR

More general terms

• genetic disease of the skin (genodermatosis)

More specific terms

• acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
• anhidrotic ectodermal dysplasia
• ectodermal dysplasia pure hair-nail type
• ectodermal dysplasia Rapp-Hodgkin type; Rapp-Hodgkin syndrome; anhidrotic ectodermal dysplasia with cleft lip/palate (EDRH)
• ectodermal dysplasia type 1 (Christ-Siemens-Touraine syndrome, X-linked hypohidrotic ectodermal dysplasia)
• ectodermal dysplasia with ectrodactyly & macular dystrophy; EEM syndrome; Albrectsen-Svendsen syndrome; Ohdo-Hirayama-Terawaki syndrome
• ectodermal dysplasia/skin fragility syndrome (McGrath syndrome)
• keratitis-ichthyosis-deafness syndrome (KID syndrome)
• Kirman syndrome
• Schopf-Schulz-Passarge syndrome
• Witkop syndrome; tooth-&-nail syndrome; dysplasia of nails with hypodontia

Database

• OMIM: https://mirror.omim.org/entry/225040
• OMIM: https://mirror.omim.org/entry/225050
• OMIM: https://mirror.omim.org/entry/225060
• OMIM: https://mirror.omim.org/entry/129490