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Classification of ectodermal dysplasias

Classification of ectodermal dysplasias
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
NOTE: The bold text highlights information not listed in an earlier article.[35]
AR: autosomal recessive; AD: autosomal dominant; ?: unknown; XD: X-linked dominant; XR: X-linked recessive; ADULT: acro-dermato-ungual-lacrimal-tooth; GOMBO: growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia.
References:
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  2. van Steensel MA, van der Hout AH. Lelis syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. Am J Med Genet 2009; 149A:1612.
  3. Montebelo Filho A, Freire AR, Pinheiro M, Freire-Maia N. Odonto-ungueal dysplasia: An apparently new autosomal dominant ectodermal dysplasia. Braz J Genet 1996; 19:162.
  4. Koshiba H, Kimura O, Nakata M, Witkop CJ Jr. Clinical, genetic, and histologic features of the trichoonychodental [TOD] syndrome. Oral Surg 1978; 46:376.
  5. Moynahan EJ. XTE syndrome (xeroderma, talipes and enamel defect): A new heredo-familial syndrome. Proc R Soc Med 1970; 63:1.
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  12. Lenz W. Medical Genetics, University of Chicago Press, Chicago 1963. p. 214.
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  14. Fischer H. Familiar hereditäres vorkommen von keratoma palmare et plantare, nagelveränderungen, haaranomalien und verdickung der endglieder der finger und zehen in 5 generationen. (Die beziehungen dieser veränderungen zur inneren secretion). Dermatol Zeitschr 1921; 32:114.
  15. Martínez BR, Monasterio LA, Pinheiro M, Freire-Maia N. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: Review of the conditions combining ectodermal dysplasia and cleft lip/palate. Am J Med Genet 1987; 27:23.
  16. Steijlen PM, Neumann HA, Der-Kinderen DJ, et al. Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: A new syndrome? J Am Acad Dermatol 1994; 30:893.
  17. Werninghaus K. Ectodermal dysplasia in Cape Verdian families. Arch Dermatol 1993; 129:515.
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  21. Gyure KA, Kurczynski TW, Gunning W, French BN. Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia. Pediatr Neurol 1992; 8:469.
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  34. Beyer P, Grosshans E, Vetter JM, et al. Forme inhabituelle de dysplasia ectodermique hypohidrotique avec dês glandes sudoripares em nombre apparemment normal, mais dysplasiques et dês anomalies morphologiques de la peau. Pediatrie 1979; 34:341.
  35. Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet A 2009; 149A:1980.
From: Pagnan NA, Visinon ÁF. Update on ectodermal dysplasias clinical classification. Am J Med Genet A 2014; 164A(10):2415-23. https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36616. Copyright © 2014 Wiley Periodicals, Inc. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (http://onlinelibrary.wiley.com).
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