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 | ✓ | ✓ | ✓ | ✓ |
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).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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