Syndromes with features of ectodermal dysplasia

Affected gene(s)	Syndrome(s) with a partial ectodermal dysplasia-like phenotype but classified elsewhere	OMIM number	Hypodontia	Hair	Nail phenotypic	Glandular features	Additional symptoms
CDH1, CTNND1	Blepharocheilodontic syndrome 1/Blepharocheilodontic syndrome 2 (BCDS1/BCDS2)	119580, 617681	✓	✓			✓
IFT43, -52, -122, -140 WDR19, -35	Cranioectodermal dysplasia, types 1-4 (CED) or Sensenbrenner syndrome	218330	✓	✓	✓		✓
EVC, EVC2	Ellis-van Creveld syndrome (EVC)	225500	✓	✓	✓		✓
EVC, EVC2	Weyers acrofacial dysostosis (WAD)	193530	✓		✓		✓
KCTD1	Scalp-ear-nipple syndrome (SENS)	181270	✓	✓	✓	✓	✓
SOX9-CNJ2*	Cooks syndrome	106995		✓	✓		✓
ANTXR1	Growth retardation, alopecia, pseudoanodontia, and optic atrophy syndrome (GAPO)	230740	✓	✓	✓		✓
SMARCAD1	Huriez syndrome/Basan syndrome	181600, 129200		✓		✓
DSP	Carvajal syndrome (DCWHK)	605676	✓	✓	✓		✓
KRT14	Dermatopathia pigmentosa reticularis (DPR)/Naegeli syndrome (NFJS)	125595, 161000	✓	✓	✓	✓
KRT16, -17	Pachyonychia congenita 1/Pachyonychia congenita 2 (PC1/PC2)	167200, 167210	✓	✓	✓	✓
ARID1A, -1B SMARCA4, -B1, -E1	Coffin-Siris syndrome (CSS)	135900	✓	✓	✓		✓
ATP6V1B2	Deafness, congenital, and onychodystrophy, AD (DDOD)	124480	✓		✓		✓
TBC1D24	Deafness, onycho- and osteodystrophy, mental retardation, and seizures syndrome	220500	✓		✓		✓
SLC25A24	Gorlin-Chaudhry-Moss syndrome (FPS)	612289	✓	✓	✓		✓
PEX1, PEX6	Heimler syndrome 1 (HMLR1)/Heimler syndrome 2 (HMLR2)	234580, 616617	✓		✓		✓
UBR1	Johanson-Blizzard syndrome (JBS)	243800	✓	✓			✓
FGFR3, -2 FGF10	Lacrimo-auriculo-dento-digital syndrome (LADD)	149730	✓			✓	✓
SREBF1	Mucoepithelial dysplasia, hereditary (HMD)	158310		✓	✓
HEPHL1	Pili torti and developmental delay (HJDD)	261990		✓	✓		✓
KRT81, -83, -86, DSG4	Monilethrix (MNLIX)	158000		✓	✓
RODGI	Kohlschütter-Tönz syndrome	226750	✓	✓			✓
INSR	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	262190	✓	✓		✓	✓
CTSK	Pycnodysostosis (PKND)	265800	✓		✓		✓
SETBP1	Schinzel-Giedion midface retraction syndrome (SGS)	269150	✓	✓	✓		✓

Syndromes with features of ectodermal dysplasia that are related to genes apparently not involved in the already known pathways and that mainly affect organs of nonectodermal origin or where ectodermal dysplasia is just a small part of a complex syndrome. Only syndromes included in the previous classification of ectodermal dysplasias^[1] are listed. Most of them could be classified elsewhere (bold, newly added disease entities).

OMIM: Online Mendelian Inheritance in Man.

* The genetic abnormality is a duplication in the putative regulatory region (not the promoter) of SOX9 (located between the SOX9 and KCNJ2 genes).

Reference:

Wright JT, Fete M, Schneider H, et al. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A 2019; 179:442.

From: Peschel N, Wright JT, Koster MI, et al. Molecular pathway-based classification of ectodermal dysplasias: First five-yearly update. Genes (Basel) 2022; 13:2327. Copyright © 2022 The Authors. Available at: https://www.mdpi.com/2073-4425/13/12/2327 (Accessed August 16, 2023). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Syndromes with features of ectodermal dysplasia