Klinische FragestellungHypohydrotische ektodermale Dysplasie; Differentialdiagnose

NGS +

illness_ClinicalComment_EP0261

• Alias: Hypo-/anhidrotic ectodermal dysplasia: hypotrichosis, an-/hypodontia, an-/hypohidrosis
• Alias: XLR hypohidrotic ectodermal dysplasia [Christ-Siemens-Touraine syndrome] (EDA)
• Allelic: Amelogenesis imperfecta, type IV (DLX3)
• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Deafness, AD 1B (GJB6)
• Allelic: Deafness, AD 3A (GJB2)
• Allelic: Deafness, AD 3B (GJB6)
• Allelic: Deafness, AR 1A (GJB2)
• Allelic: Deafness, AR 98 (TSPEAR)
• Allelic: Deafness, digenic GJB2/GJB6 (GJB6)
• Allelic: Hypotrichosis 3 (KRT74)
• Allelic: Orofacial cleft 5 (MSX1)
• Allelic: Tooth agenesis, selective, 1, +/- orofacial cleft (MSX1)
• Allelic: Woolly hair, AD (KRT74)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Ectodermal dysplasia 1, hypohidrotic, XLR (EDA)
• Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR (EDAR)
• Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD (EDARADD)
• Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR (EDARADD)
• Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis
• Ectodermal dysplasia 2, Clouston type (GJB6)
• Ectodermal dysplasia 3, Witkop type (MSX1)
• Ectodermal dysplasia 4, hair/nail type (KRT85)
• Ectodermal dysplasia 7, hair/nail type (KRT74)
• Ectodermal dysplasia 9, hair/nail type (HOXC13)
• Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
• Ectodermal dysplasia, hypohydrotic, with immunodeficiency 2 (NFKBIA)
• Hystrix-like ichthyosis with deafness (GJB2)
• Immunodeficiency 33 (IKBKG)
• Incontinentia pigmenti (IKBKG)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Odontoonychodermal dysplasia (WNT10A)
• Schopf-Schulz-Passarge syndrome (WNT10A)
• Tooth agenesis, selective, 4 (WNT10A)
• Tooth agenesis, selective, XL 1 (EDA)
• Trichodontoosseous syndrome (DLX3)
• Vohwinkel syndrome (GJB2)