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Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

MedGen UID:
347363
Concept ID:
C1857053
Disease or Syndrome
Synonym: Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0009149
OMIM®: 225040
Orphanet: ORPHA1812

Definition

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Follow this link to review classifications for Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome in Orphanet.

Recent clinical studies

Etiology

Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H
Am J Hum Genet 2024 Jan 4;111(1):200-210. Epub 2023 Dec 20 doi: 10.1016/j.ajhg.2023.11.012. PMID: 38118446Free PMC Article
Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA
Am J Med Genet A 2023 Feb;191(2):323-331. Epub 2022 Oct 29 doi: 10.1002/ajmg.a.63020. PMID: 36308388Free PMC Article
Samara A, Gusman M, Aker L, Parsons MS, Mian AY, Eldaya RW
Curr Probl Diagn Radiol 2022 Sep-Oct;51(5):747-758. Epub 2021 Aug 28 doi: 10.1067/j.cpradiol.2021.07.002. PMID: 34607749
Lygidakis NN, Chatzidimitriou K, Petrou N, Lygidakis NA
Eur Arch Paediatr Dent 2013 Dec;14(6):417-23. Epub 2013 Jun 18 doi: 10.1007/s40368-013-0044-5. PMID: 23775592
Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A
Clin Dysmorphol 2000 Oct;9(4):265-8. doi: 10.1097/00019605-200009040-00006. PMID: 11045582

Diagnosis

Carey JC, Opitz JM
Am J Med Genet A 2023 Feb;191(2):640-646. Epub 2022 Nov 4 doi: 10.1002/ajmg.a.63028. PMID: 36331276
Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA
Am J Med Genet A 2023 Feb;191(2):323-331. Epub 2022 Oct 29 doi: 10.1002/ajmg.a.63020. PMID: 36308388Free PMC Article
Neau JP, Godeneche G, Mathis S, Guillet G
Handb Clin Neurol 2014;121:1561-94. doi: 10.1016/B978-0-7020-4088-7.00104-8. PMID: 24365436
Lygidakis NN, Chatzidimitriou K, Petrou N, Lygidakis NA
Eur Arch Paediatr Dent 2013 Dec;14(6):417-23. Epub 2013 Jun 18 doi: 10.1007/s40368-013-0044-5. PMID: 23775592
Peterson RE, Theobald HM, Kimmel GL
Crit Rev Toxicol 1993;23(3):283-335. doi: 10.3109/10408449309105013. PMID: 8260069

Therapy

Adachi T, Takigawa H, Nomura T, Watanabe Y, Kowa H
Intern Med 2018 Jan 1;57(1):97-99. Epub 2017 Oct 16 doi: 10.2169/internalmedicine.9052-17. PMID: 29033429Free PMC Article
Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group
Arthritis Rheum 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419. PMID: 22307734
Montalvan E, Mazzone C, Tofsky N, Mupparapu M
Pediatr Dent 2006 Jul-Aug;28(4):345-9. PMID: 16903444
Peterson RE, Theobald HM, Kimmel GL
Crit Rev Toxicol 1993;23(3):283-335. doi: 10.3109/10408449309105013. PMID: 8260069
Johnston MC, Bronsky PT
J Craniofac Genet Dev Biol 1991 Oct-Dec;11(4):277-91. PMID: 1812129

Prognosis

Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA
Am J Med Genet A 2023 Feb;191(2):323-331. Epub 2022 Oct 29 doi: 10.1002/ajmg.a.63020. PMID: 36308388Free PMC Article
Klinner J, Krüger M, Brunet T, Makowski C, Riedhammer KM, Mollweide A, Wagner M, Hoefele J
Gene 2020 Aug 30;753:144815. Epub 2020 May 29 doi: 10.1016/j.gene.2020.144815. PMID: 32479982
Lygidakis NN, Chatzidimitriou K, Petrou N, Lygidakis NA
Eur Arch Paediatr Dent 2013 Dec;14(6):417-23. Epub 2013 Jun 18 doi: 10.1007/s40368-013-0044-5. PMID: 23775592
Reinker KA, Stevenson DA, Tsung A
J Pediatr Orthop 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e. PMID: 21654472
Atar M, Körperich EJ
J Dent 2010 Apr;38(4):296-306. Epub 2010 Jan 13 doi: 10.1016/j.jdent.2009.12.001. PMID: 20004698

Clinical prediction guides

Leduc F, Smol T, Catteau B, Boute O, Petit F
Eur J Med Genet 2024 Jun;69:104942. Epub 2024 Apr 25 doi: 10.1016/j.ejmg.2024.104942. PMID: 38677542
Klinner J, Krüger M, Brunet T, Makowski C, Riedhammer KM, Mollweide A, Wagner M, Hoefele J
Gene 2020 Aug 30;753:144815. Epub 2020 May 29 doi: 10.1016/j.gene.2020.144815. PMID: 32479982
Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group
Arthritis Rheum 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419. PMID: 22307734
Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A
Clin Dysmorphol 2000 Oct;9(4):265-8. doi: 10.1097/00019605-200009040-00006. PMID: 11045582
Peterson RE, Theobald HM, Kimmel GL
Crit Rev Toxicol 1993;23(3):283-335. doi: 10.3109/10408449309105013. PMID: 8260069

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