EEC syndrome

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

Cleft lip

A gap in the lip or lips.


Total: 10

                       


(per page)
PMID (PMCID)
28253185
 MALE Young Adult
Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.
Sharma G, Nagpal A.
Gen Dent. 2017;65(2):66-69.
This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate.
25231046
 MALE
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.
Dhar RS, Bora A.
J Indian Soc Pedod Prev Dent. 2014;32(4):346-9.
We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features.
23431748
 FEMALE Infant, Newborn
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
Okur M, Eroz R, Mundlos S, Senses DA, Ulgen E, Ismailler ZB, Ozcelik D.
Genet Couns. 2012;23(4):483-5.
EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss.
22919554
(3424774)
 OTHER
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.
Rios LT, Araujo Junior E, Caetano AC, Nardozza LM, Moron AF, Martins MG.
J Clin Imaging Sci. 2012;2:40.
THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation.
21434540
 MIXED_SAMPLE Infant, Newborn
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.
Ergin H, Semerci CN, Karakus YT, Scheffer H, Ergin S, Koltuksuz U, Meijer R, Satiroglu-Tufan NL.
Turk J Pediatr. 2010;52(5):529-33.
The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients.
12443822
 MALE Infant, Newborn
Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.
Johnson SE, Tatum SA, Thomson LL.
Int J Pediatr Otorhinolaryngol. 2002;66(3):309-13.
Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome.
8885020
 FEMALE Infant, Newborn
Ectrodactyly, ectodermal dysplasia, and cleft lip syndrome. Case report.
Seno H, Yanai A, Sugino H, Inoue M, Takei T, Miyake I.
Scand J Plast Reconstr Surg Hand Surg. 1996;30(3):227-30.
We describe five sporadic cases of the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip).
8723108
 MIXED_SAMPLE Infant, Newborn
Rectal atresia as rare manifestation in EEC syndrome.
Majewski F, Goecke T.
Am J Med Genet. 1996;63(1):190-2.
Despite absence of cleft lip or palate, the findings fit the EEC syndrome.
1795140
 FEMALE Infant
[A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].
Nakamura K, Yoshimasu H, Komuro C, Kobayashi A, Moon K, Sato M, Yamashiro M, Arai N, Shioiri S, Amagasa T.
Kokubyo Gakkai Zasshi. 1991;58(4):718-24.
EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate.
4061420
 MALE Infant, Newborn
Urinary tract involvement in EEC syndrome.
London R, Heredia RM, Israel J.
Am J Dis Child. 1985;139(12):1191-3.
A patient with fully expressed, sporadic ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate (EEC) syndrome with renal involvement is presented; descriptions of four similar patients were found in the literature.