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Cerebellar ataxia-ectodermal dysplasia syndrome

MedGen UID:
347850
•Concept ID:
C1859306
•
Disease or Syndrome
Synonyms: Cerebellar ataxia ectodermal dysplasia; Ectodermal dysplasia and cerebellar ataxia
SNOMED CT: Cerebellar ataxia co-occurrent with ectodermal dysplasia (715371006); Cerebellar ataxia and ectodermal dysplasia (715371006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008934
OMIM®: 212835
Orphanet: ORPHA1174

Definition

A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar ataxia-ectodermal dysplasia syndrome
Follow this link to review classifications for Cerebellar ataxia-ectodermal dysplasia syndrome in Orphanet.

Professional guidelines

PubMed

Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S
Mol Genet Genomic Med 2023 Mar;11(3):e2124. Epub 2022 Dec 20 doi: 10.1002/mgg3.2124. PMID: 36538006Free PMC Article
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T
AJNR Am J Neuroradiol 2023 Mar;44(3):334-340. Epub 2023 Feb 23 doi: 10.3174/ajnr.A7805. PMID: 36822823Free PMC Article
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL
Am J Hum Genet 2022 Nov 3;109(11):2068-2079. Epub 2022 Oct 24 doi: 10.1016/j.ajhg.2022.09.012. PMID: 36283405Free PMC Article
Congenital Malformations of Cerebellum.
Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048

Diagnosis

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T
AJNR Am J Neuroradiol 2023 Mar;44(3):334-340. Epub 2023 Feb 23 doi: 10.3174/ajnr.A7805. PMID: 36822823Free PMC Article
Congenital Malformations of Cerebellum.
Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961
Chudley McCullough syndrome.
Nadkarni TD, Menon RK, Shah AH, Goel A
Childs Nerv Syst 2008 May;24(5):541-4. Epub 2007 Oct 26 doi: 10.1007/s00381-007-0518-z. PMID: 17962956

Therapy

Long-term imaging course of Chiari malformation type I due to fibrous dysplasia/McCune-Albright syndrome.
Sato K, Tsunoda K, Matsuo T
Childs Nerv Syst 2022 Sep;38(9):1817-1820. Epub 2022 Jul 5 doi: 10.1007/s00381-022-05472-0. PMID: 35790572
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M
J Med Genet 2016 May;53(5):318-29. Epub 2016 Jan 13 doi: 10.1136/jmedgenet-2015-103416. PMID: 27095636Free PMC Article
Cerebropulmonary dysgenetic syndrome.
Shanklin DR, Mullins AC, Baldwin HS
Exp Mol Pathol 2008 Oct;85(2):112-6. Epub 2008 May 28 doi: 10.1016/j.yexmp.2008.04.006. PMID: 18603241
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E
J Child Neurol 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. PMID: 10385844

Prognosis

Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE
Am J Med Genet A 2020 Oct;182(10):2214-2221. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61782. PMID: 32783359Free PMC Article
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
Cerebellum 2014 Feb;13(1):79-88. doi: 10.1007/s12311-013-0521-8. PMID: 24013853
Cerebropulmonary dysgenetic syndrome.
Shanklin DR, Mullins AC, Baldwin HS
Exp Mol Pathol 2008 Oct;85(2):112-6. Epub 2008 May 28 doi: 10.1016/j.yexmp.2008.04.006. PMID: 18603241
Hypopituitarism oddities: congenital causes.
Kelberman D, Dattani MT
Horm Res 2007;68 Suppl 5:138-44. Epub 2007 Dec 10 doi: 10.1159/000110610. PMID: 18174732

Clinical prediction guides

Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.
Pinto E, Pinto C, Ramos C, Alves JE
Pediatr Radiol 2023 Mar;53(3):561-563. Epub 2022 Sep 22 doi: 10.1007/s00247-022-05503-7. PMID: 36136119
Cerebellar Watershed Injury in Children.
Wright JN, Shaw DWW, Ishak G, Doherty D, Perez F
AJNR Am J Neuroradiol 2020 May;41(5):923-928. Epub 2020 Apr 23 doi: 10.3174/ajnr.A6532. PMID: 32327437Free PMC Article
Hypopituitarism oddities: congenital causes.
Kelberman D, Dattani MT
Horm Res 2007;68 Suppl 5:138-44. Epub 2007 Dec 10 doi: 10.1159/000110610. PMID: 18174732
The neuropsychiatry of the cerebellum - insights from the clinic.
Schmahmann JD, Weilburg JB, Sherman JC
Cerebellum 2007;6(3):254-67. doi: 10.1080/14734220701490995. PMID: 17786822

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