Ectrodactyly with and without other manifestations

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

Orphanet:

ORPHA498477

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEctrodactyly with and without other manifestations

Ectrodactyly with and without other manifestations

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: 14726642 Free PMC Article

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Recent clinical studies

Etiology

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.

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: 31200655 Free 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: 27291887 Free PMC Article

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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.

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: 31200655 Free 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

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Therapy

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.

See all (1)

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

See all (2)