Genetics

34 Ectodermal Dysplasias have genes that have been identified

Researchers have identified 34 genes that cause various Ectodermal Dysplasias (see list below). What does that mean for families of affected individuals? First, identifying the gene paves the way for genetic testing to confirm diagnosis. Also, the road to treatment begins with the identification of the gene causing the problem.
ADULT syndrome
Ankyloblepharon – Ectodermal defects-Clefting (AEC)
Cleft Lip/Palate – Ectodermal Dysplasia Syndrome (CLPED1)
Clouston Syndrome
Ectodermal Dysplasia / Skin Fragility Syndrome
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (EEM)
Ectodermal Dysplasia – Nailtype ‘Pure’
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome 1 (EEC1)
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome 2 (EEC2)
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate Syndrome 3 (EEC3)
Focal Dermal Hypoplasia (Goltz syndrome)
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
Hypohidrotic Ectodermal Dysplasia, Autosomal Dominant (ADHED)
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive (ARHED)
Ichthyosis, Hystrix-like, with Deafness (HID Syndrome)
Incontinentia Pigmenti 2
Keratitis-Ichthyosis-Deafness Syndrome, AD (KID, AD)
Limb-Mammary Syndrome
Naegeli-Franceschetti-Jadassohn Syndrome
Oculodentodigital Dysplasia (ODDD)
Odontoonychodermal Dysplasia [OODD)
Hair – OL-HED-ID Syndrome
Pachyonychia Congenita 1 and 2
Palmoplantar Keratoderma, with Deafness
Rapp-Hodgkin Syndrome (RHS)
Rosselli-Gulienetti Syndrome
SHFM4 Syndrome
Trichodentoosseous (TDO) Syndrome
Witkop Syndrome
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

 

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