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Ectrodactyly with and without other manifestations

MedGen UID:
1843164
•Concept ID:
C5681242
•
Congenital Abnormality
Orphanet: ORPHA498477

Professional guidelines

PubMed

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828
Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
Ryu JK, Cho JY, Choi JS
Korean J Radiol 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. PMID: 14726642Free PMC Article

Recent clinical studies

Etiology

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.
Ramos-Zaldívar HM, Martínez-Irías DG, Espinoza-Moreno NA, Napky-Rajo JS, Bueso-Aguilar TA, Reyes-Perdomo KG, Montes-Gambarelli JA, Euceda IM, Ponce-Barahona AF, Gámez-Fernández CA, Moncada-Arita WA, Palomo-Bermúdez VA, Jiménez-Faraj JE, Hernández-Padilla AG, Olivera DA, Robertson KJ, Leiva-Sanchez LA, Herrera-Paz EF
J Med Case Rep 2016 Jun 13;10(1):156. doi: 10.1186/s13256-016-0921-8. PMID: 27291887Free PMC Article

Diagnosis

A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
Sodero G, Colonna AT, Purcaro V, Onesimo R, Zampino G, Vento G
J Neonatal Perinatal Med 2023;16(2):349-353. doi: 10.3233/NPM-231217. PMID: 37182847
Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.
Kennedy DP, Chandler JW, McCulley JP
Cont Lens Anterior Eye 2015 Jun;38(3):228-31. Epub 2015 Mar 11 doi: 10.1016/j.clae.2015.02.002. PMID: 25769661
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Therapy

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828

Prognosis

Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.
Kennedy DP, Chandler JW, McCulley JP
Cont Lens Anterior Eye 2015 Jun;38(3):228-31. Epub 2015 Mar 11 doi: 10.1016/j.clae.2015.02.002. PMID: 25769661
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A
Spec Care Dentist 2023 Mar;43(2):152-162. Epub 2022 Jul 25 doi: 10.1111/scd.12752. PMID: 35879828
ADULT syndrome allelic to limb mammary syndrome (LMS)?
Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K
Am J Med Genet 2000 Jan 17;90(2):179-82. PMID: 10607963

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