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Ectodermal dysplasia with intellectual disability and syndactyly

MedGen UID:
322135
•Concept ID:
C1833169
•
Disease or Syndrome
Synonyms: Ectodermal dysplasia mental retardation syndactyly; Ectodermal dysplasia with mental retardation and syndactyly
 
Monarch Initiative: MONDO:0010955
OMIM®: 600906

Recent clinical studies

Etiology

TP63-related disorders: two case reports and a brief review of the literature.
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
Sathishkumar D, Ogboli M, Moss C
Clin Exp Dermatol 2020 Dec;45(8):994-1002. Epub 2020 Jul 18 doi: 10.1111/ced.14331. PMID: 32501579
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E
Am J Med Genet A 2011 Nov;155A(11):2746-9. Epub 2011 Oct 11 doi: 10.1002/ajmg.a.34270. PMID: 21990121
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
Silengo M, Silvestro L, Capizzi G, Lerone M, Seri M, Rosaia L, Romeo G
J Med Genet 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157. PMID: 9507398Free PMC Article

Diagnosis

TP63-related disorders: two case reports and a brief review of the literature.
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
Sathishkumar D, Ogboli M, Moss C
Clin Exp Dermatol 2020 Dec;45(8):994-1002. Epub 2020 Jul 18 doi: 10.1111/ced.14331. PMID: 32501579
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.
Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P
Am J Med Genet A 2015 Apr;167A(4):842-51. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36983. PMID: 25708316
Syndactyly, ectodermal dysplasia, and cleft lip/palate.
Zlotogora J
J Med Genet 1994 Dec;31(12):957-9. doi: 10.1136/jmg.31.12.957. PMID: 7891379Free PMC Article

Prognosis

Syndactyly, ectodermal dysplasia, and cleft lip/palate.
Zlotogora J
J Med Genet 1994 Dec;31(12):957-9. doi: 10.1136/jmg.31.12.957. PMID: 7891379Free PMC Article

Clinical prediction guides

Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.
Elhamouly Y, Dowidar KM
Spec Care Dentist 2019 Mar;39(2):236-240. Epub 2019 Feb 5 doi: 10.1111/scd.12364. PMID: 30720215
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J
J Child Neurol 2008 Jun;23(6):683-9. Epub 2008 Jan 8 doi: 10.1177/0883073807309778. PMID: 18182642

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