Ectodermal dysplasia (ED) | OMIM, whenever available | Inheritance |
Subgroup hair-teeth-nails-sweat glands (n = 38) | ||
Alopecia-contractures-dwarfism mental retardation syndrome | 203550 | AR |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome; Hay-Wells syndrome); Rapp-Hodgkin syndrome (129400) included | 106260 | AD |
Anonychia with flexural pigmentation | 106750 | AD |
Acrorenal field defect, ED, and lipoatrophic diabetes (AREDYLD) | 207780 | AR |
Arthrogryposis and ED | 601701 | AR |
Camarena syndrome[1] | – | AD?; XD? |
Cleft lip/palate-ED syndrome (CLPED1 syndrome; Zlotogora-Ogur syndrome; Margarita Island syndrome) | 225060 | AR |
Curly hair-acral keratoderma-caries syndrome[2] | – | AD |
Dyskeratosis congenita, AD (dyskeratosis congenita, Scoggins type) | 127550 | AD |
Dyskeratosis congenita, AR | 224230 | AR |
Dyskeratosis congenita, X-linked (Zinsser-Cole-Engman syndrome) | 305000 | XR |
Ectrodactyly, ED, and cleft lip/palate syndrome (EEC1 syndrome) | 129900 | AD |
Ectrodactyly, ED, and cleft lip/palate syndrome 3 (EEC3 syndrome) | 604292 | AD |
ED hypohidrotic, with acanthosis nigricans (Lelis syndrome) | 608290 | ? |
ED-syndactyly syndrome 2 (EDSS2) | 613576 | AR |
ED with natal teeth, Turnpenny type | 601345 | AD |
ED, Caratinga type[3] | – | AD?; XD? |
ED, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum | 225040 | AD?; AR?; XD? |
Focal dermal hypoplasia (FDH) | 305600 | XD |
Hypohidrotic ED, AD (ADHED) | 129490 | AD |
Hypohidrotic ED, AR (ARHED) | 224900 | AR |
Hypohidrotic ED, X-linked (XLHED; Christ-Siemens-Touraine [CST] syndrome) | 305100 | XR |
Hypohidrotic ED with immune deficiency | 300291 | XD |
Hypohidrotic ED with immunodeficiency, osteopetrosis, and lymphedema (OLEDAID syndrome) | 300301 | XD |
Hypomelanosis of Ito (HMI, incontinentia pigmenti type I [IP1]) | 300337 | XD |
Keratitis-ichthyosis-deafness syndrome, AD (KID syndrome, AD) | 148210 | AD |
Keratitis-ichthyosis-deafness syndrome, AR (KID syndrome, AR) | 242150 | AR |
Naegeli syndrome (Naegeli-Franceschetti-Jadassohn syndrome [NFJS]) | 161000 | AD |
Odonto-onychodermal dysplasia (OODD); Schöpf-Schulz-Passarge syndrome (224750) included | 257980 | AR |
Odontotrichomelic syndrome (tetramelic deficiencies, ED, deformed ears, and other abnormalities) | 273400 | AR |
Pachyonychia congenita, type 1 (PC1) | 167200 | AD |
Pachyonychia congenita, type 2 (PC2) | 167210 | AD |
Papillon-Lefevre syndrome | 245000 | AR |
Rosselli-Gulienetti syndrome | 225000 | AR |
Scalp-ear-nipple syndrome (Finlay-Marks syndrome; ED with adrenal cyst) | 181270; 129550 | AD |
Tricho-odonto-onychodysplasia with pili torti[1] | – | AD?; XD? |
Tricho-onycho-dental dysplasia (TOD)[4] | – | AD |
Xeroderma-talipes-enamel defects (XTE)[5] | – | AR |
Subgroup hair-teeth-nails (n = 34) | ||
Ackerman syndrome | 200970 | AR |
ADULT syndrome | 103285 | AD |
Arthrogryposis, ED, cleft lip/palate, and developmental delay | 301815 | XR |
Cardiofaciocutaneous syndrome (CFC syndrome) | 115150 | AD |
Cardiomyopathy, dilated, with woolly hair, and keratoderma (Carvajal syndrome) | 605676 | AR |
Clouston syndrome (ED, hidrotic, AD) | 129500 | AD |
Coffin-Siris syndrome | 135900 | AD?; AR?; XD? |
Costello syndrome | 218040 | AR |
Cranioectodermal dysplasia (CED1; Sensenbrenner syndrome); CED2 (613610), CED3 (614099), and CED4 (614378) included | 218330 | AR |
Dermoodontodysplasia | 125640 | AD |
Dolichocephaly, dental defects, trichodysplasia[1] | – | AD |
ED-syndactyly syndrome 1 (EDSS1); ED with pillous anomaly and syndactyly[6] included | 613573 | AR |
ED, trichoodontoonychial type | 129510 | AD |
Ellis-van Creveld syndrome (EVC) | 225500 | AR |
Growth retardation, alopecia, pseudoanodontia, and optic atrophy syndrome (GAPO syndrome) | 230740 | AR |
GOMBO syndrome | 233270 | AR |
Hidrotic ED, AR (Fried's tooth and nail syndrome) | 602401 | AR |
Hypotrichosis with pili bifurcate[7] | – | AR? |
Incontinentia pigmenti (IP2) | 308300 | XD |
Oculotrichodysplasia (OTD) | 257960 | AR |
Odonto-onychodysplasia-alopecia[8] | – | AR |
Odontotrichoungual-digital-palmar syndrome | 601957 | AD?; XD? |
Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | 262190 | AR |
Rothmund-Thomson syndrome (RTS syndrome) | 268400 | AR |
Schinzel-Giedion midface-retraction syndrome | 269150 | AR?; AD? |
Sener syndrome | 606156 | ? |
Split-hand/foot malformation (SHFM1); SHFM3 (246560), SHFM4 (605289), and SHFM5 (606708) included | 183600 | AD |
Thumb deformity and alopecia | 188150 | AD |
Trichodentoosseus syndrome (TDO) | 190320 | AD |
Tricho-dermodysplasia-dental defects[9] | – | AD?; XD? |
Trichoodontoonychial dysplasia with bone deficiency | 275450 | AR? |
Trichorhinophalangeal syndrome, type I (TRPS1) | 190350 | AD |
Trichothiodystrophy, photosensitive (TTDP) | 601675 | AR |
Witkop syndrome | 189500 | AD |
Subgroup hair-teeth-sweat glands (n = 8) | ||
Böök syndrome | 112300 | AD |
Cleft lip/palate, ED, acral anomalies[10] | – | AR |
Hypohidrotic ED with focal sweating[11] | – | AR?; XR? |
Ichthyosis follicularis, atrichia, and photophobia syndrome with or without bresheck syndrome (IFAP syndrome) | 308205 | XR |
Johnson neuroectodermal syndrome | 147770 | AD |
Lenz-Passarge dysplasia[12] | – | XD |
Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis | 246500 | AR |
Ulnar-mammary syndrome (UMS) | 181450 | AD |
Subgroup hair-nails-sweat glands (n = 4) | ||
Alopecia-skin atrophy-anonychia-tongue defects[13] | – | ? |
ED, hypohidrotic, with hypothyroidism and ciliary dyskinesia (HEDH syndrome) | 225050 | AR |
ED/skin fragility syndrome | 604536 | AR |
Fischer-Volavsek syndrome[14] | – | AD |
Subgroup teeth-nails-sweat glands (n = 2) | ||
Ameloonychohypohidrotic syndrome | 104570 | AD |
Limb-mammary syndrome (LMS) | 603543 | AD |
Subgroup hair-teeth (n = 29) | ||
Barber-Say syndrome | 209885 | AR?; AD?; XD? |
Blepharocheilodontic syndrome | 119580 | AD |
Brachymetapody-anodontia-hypotrichosis-albinoidism | 211370 | AR |
Cataract, hypertrichosis, mental retardation syndrome (CAHMR syndrome) | 211770 | AR |
Cerebellar ataxia and ED | 212835 | AR |
Cleft lip/palate-oligodontia-syndactyly-hair defects[15] | – | AD?; XD? |
Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome (CHIME syndrome; Zunich neuroectodermal syndrome) | 280000 | AR |
Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth[16] | – | AR? |
Dubowitz syndrome | 223370 | AR |
ED and neurosensory deafness | 224800 | AR |
ED, Cape Verde[17] | – | AR |
ED, ectrodactyly, and macular dystrophy syndrome (EEM syndrome); hypotrichosis, congenital, with juvenile macular dystrophy (HJMD, 601553) included | 225280 | AR |
Gorlin-Chaudhry-Moss syndrome | 233500 | AR |
Hallermann-Streiff syndrome (HSS) | 234100 | AR |
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (gingival fibromatosis with hypertrichosis) | 135400 | AD |
Hypertrichosis universalis | 145700 | AD |
Johanson-Blizzard syndrome (JBS) | 243800 | AR |
Mental retardation, hypotrichosis, and syndactyly[18] | – | AR? |
Oculodentoosseous dysplasia, AR | 257850 | AR |
Oculodentodigital dysplasia (ODDD) | 164200 | AD |
Orofaciodigital syndrome I (OFD1 syndrome) | 311200 | XD |
Pili torti, early onset | 261900 | AR |
Pilodental dysplasia with refractive errors | 262020 | AR |
Progeroid short stature with pigmented nevi (Mulvihill-Smith syndrome) | 176690 | AD |
Rodrigues blindness (microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities) | 268320 | AR |
Trichodental dysplasia | 601453 | AD |
Trichodysplasia and amelogenesis imperfect[19] | – | AD?; XD? |
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly | 191482 | AD |
Walbaum-Dehaene-Schlemmer syndrome[20] | – | AR |
Subgroup hair-nails (n = 25) | ||
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (Cooks syndrome) | 106995 | AD |
AR neurodegenerative disorder with trichorrhexis invaginata and ED[21] | – | AR? |
Cartilage-hair hypoplasia (CHH) | 250250 | AR |
Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS) | 214350 | AR |
ED hidrotic, Christianson-Fourie type | 601375 | AD |
ED with skin anomalies and mental retardation[22] | – | AR |
ED, "pure" hair-nail type | 602032 | AD? |
Hair-nail dysplasia[23] | – | AD |
Hairy elbows (hypertrichosis cubiti) | 139600 | AD |
Ichthyosis and male hypogonadism | 308200 | XR? |
Ichthyosis with alopecia, eclabion, ectropion, and mental retardation | 242510 | AR |
Lymphedema-hypoparathyroidism syndrome | 247410 | AR?; XR? |
Monilethrix | 158000 | AD |
Onychotrichodysplasia and neutropenia | 258360 | AR |
Palmoplantar keratoderma and congenital alopecia, AD (alopecia congenita with keratosis palmoplantaris) | 104100 | AD |
Pili torti and onychodysplasia[24] | – | AD |
Pili torti, alopecia, and onychodysplasia[25] | – | AR |
Polyposis, skin pigmentation, alopecia, and fingernail changes | 175500 | ? |
Popliteal pterygium syndrome, lethal type | 263650 | AR |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome (SOFT syndrome)[26] | – | AR |
Syndrome of accelerated skeletal maturation, failure to thrive, and peculiar face (Marshall syndrome II)[27] | – | AR?; XR? |
T cell immunodeficiency, congenital alopecia, and nail dystrophy | 601705 | AR? |
Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina | 275400 | AR |
Tricho-onychodysplasia-xeroderma[28] | – | AR |
Trichothiodystrophy, nonphotosensitive 1 (TTDN1) | 234050 | AR |
Subgroup hair-sweat glands (n = 4) | ||
Dry skin and extranumerary areolae[29] | – | AD |
Focal facial dermal dysplasia (Brauer syndrome); facial ED (Setleis syndrome, 227260) included | 136500 | AD |
Short stature-kidney insufficiency-ophthalmological anomaly-growth retardation-ED (SKORED)[30] | – | AR?; XR? |
Tricho-facio-hypohidrotic syndrome[31] | – | AR?; XR? |
Subgroup teeth-nails (n = 14) | ||
Corneodermatoosseous syndrome (CDO syndrome) | 122440 | AD |
Deafness, congenital, and onychodystrophy, AD | 124480 | AD |
Deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome (DOOR syndrome) | 220500 | AR?; AD? |
Dermatoosteolysis, Kirghizian type | 221810 | AR |
Haim-Munk syndrome (HMS) | 245010 | AR |
Hearing loss, sensorineural, with enamel hypoplasia and nail defects (Heimler syndrome) | 234580 | AR |
Khan et al. chondroectodermal dysplasia[32] | – | AR |
Lacrimoauriculodentodigital syndrome (LADD syndrome) | 149730 | AD |
Odontomicronychial dysplasia | 601319 | AR |
Odonto-ungueal dysplasia[33] | – | AD |
Otopalatodigital syndrome, type I (OPD1 syndrome) | 311300 | XD |
Pycnodysostosis | 265800 | AR |
Weyers acrofacial dysostosis | 193530 | AD |
Williams-Beuren syndrome (WBS) | 194050 | AD |
Subgroup teeth-sweat glands (n = 3) | ||
Hypohidrotic ED with mydriasis, iris atrophy, and mental retardation[34] | – | AD? |
Kohlschutter-Tonz syndrome (epilepsy, dementia, and amelogenesis imperfecta) | 226750 | AR?; XR? |
Marshall syndrome I | 154780 | AD |
Subgroup nail-sweat glands (n = 2) | ||
Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) | 129200 | AD |
Pachyonychia congenita, AR | 260130 | AR |
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