Table 1

Classification scheme of EDs. Italic bold entries indicate identified causative gene; Mendelian inheritance is also reported

Group 1 (Defects in developemental regulation/epithelial-mesenchymal interaction)
Look at TNF-like TNFRs signalling pathways/NF-kB regulation patterns if: Major ectodermal derivative involvement 1 Hypohidrotic ED, X linked (MIM 305100) XR
2 Hypohidrotic ED, (MIM 129490) AD
Hypohidrotic ED, (MIM 224900) AR
3Dermo-odonto dysplasia (MIM 125640)AD
4Hidrotic ED (Christianson Fourier type) (MIM 601375)AD
5Odonto-onycho-ungual-digito-palmar syndrome, Mendoza-Valiente type (MIM 601957)AD
6Amelo-onycho-hypohidrotic sindrome (MIM 104570)AD
7BOOK syndrome (canities prematura) (MIM 112300)AD
8Pili torti (twisted hair) with enamel defects (MIM 261900)AR
9Hypodontia-nail dysgenesis “tooth-nail syndrome” (MIM 189500)AD
10Taurodontia, absent teeth, and sparse hair (MIM 272980)AR
11Odonto-onycho-hypohidrotic dysplasia with midline scalp defects (MIM 129550)AD
12Scalp/ear/nipple syndrome (MIM 181270)
13Ectodermal dysplasia with natal teeth, Turnpenny type (MIM 601345)AD
14Ectodermal dysplasia, “pure” hair-nail type (MIM 602032)AD
ID, abnormal immune response, functional abnormalities of CNS 15 IP (MIM 308310) XD
16 HED-ID and XHM-ED (MIM 300291) XR
17Onycho-tricho-dysplasia and neutropenia (MIM 258360)AR
18Amelo-cerebro-hypohidrotic syndrome (epilepsy and yellow teeth) (MIM 226750)AR
19Cerebellar ataxia and ectodermal dysplasia (MIM 212835)AR
Look at regulators of gene expression if: Major skeletal involvement 20 EEC syndrome (EEC3) (MIM 604292) AD
AEC syndrome (MIM 106260) AD
Rapp-Hodgkin (MIM 129400)AD
ADULT syndrome (MIM 103285) AD
21EEC syndrome (EEC1) (MIM 129900)AD
22 TDO syndrome (MIM 190320) AD
23 EvC syndrome (MIM 225500) AR
24Limb-mammary syndrome (MIM 603543)AD
25LADD syndrome ( MIM 149730)AD
26Cartilage-hair hypoplasia (MIM 250250)AR
27Sensenbrenner disease (cranio-ectodermal dysplasia) (MIM 218330)AR
28Tricho-odonto-onychial-dysplasia with bone deficiency in frontoparietal region (MIM 275450)AR
29ACD syndrome (MIM 203550)AR
30Odonto-trichomelic syndrome (MIM 273400) and (MIM 273390)AR
Endocrine defects 31CLPED/Fryns-Soekerman type (MIM 225040)AR
32ANOTHER syndrome (MIM 225050)AR
Group 2 (Cytoskeleton maintainance and cell stability)
Look at connexins, desmosomal plaques, proteins if: Hyperkeratosis/ keratoderma 1 Clouston disease (MIM 129500) AD
2 ED/skin fragility syndrome (MIM 604536) AR
3Odonto-onycho-dermal-dysplasia (MIM 257980)AR
4Leucomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis (MIM 246500)AR
5Naegeli-Franceschetti-Jadassohn syndrome (MIM 161000)AD
6Amelo-onycho-hypohidrotic syndrome (MIM 104570)AD
7Pilodental dysplasia with refractive errors (MIM 262020)AR
Look at connexins if: Deafness, and/or corneal anomalies 8Deafness-onychodystrophy (MIM 124480)AD
9Deafness, enamel hypoplasia, and nail defects (MIM 234580)AR
10ED, tricho-odonto-onychial and amastia (MIM 129510)AD
Look at NAP system proteins if: CLPED 11 Zlogotora-Ogur/Rosselli-Guglielmetti syndrome (MIM 225000) AR
ED Margarita type syndrome (MIM 225060) AR
Look at PDZ proteins if: Retinal degeneration 12Oculo-tricho-dysplasia (MIM 257960)AR
13Bork syndrome (MIM 191482)AD
14EEM syndrome (MIM 225280)AR