Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_112_24 |
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| _version_ | 1849731523054403584 |
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| author | Shivani Ranjan Neha Akhoon |
| author_facet | Shivani Ranjan Neha Akhoon |
| author_sort | Shivani Ranjan |
| collection | DOAJ |
| description | Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC syndrome in a family and highlights the intrafamilial variations indicating variable penetrance. |
| format | Article |
| id | doaj-art-2ff76c24bf5e453b9ccd56e1d41a8c92 |
| institution | DOAJ |
| issn | 2319-7250 2319-7269 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj-art-2ff76c24bf5e453b9ccd56e1d41a8c922025-08-20T03:08:32ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502319-72692025-01-01261293110.4103/ijpd.ijpd_112_24Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a FamilyShivani RanjanNeha AkhoonEctrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC syndrome in a family and highlights the intrafamilial variations indicating variable penetrance.https://journals.lww.com/10.4103/ijpd.ijpd_112_24cleft lipcleft palateectodermal dysplasiaectrodactyly |
| spellingShingle | Shivani Ranjan Neha Akhoon Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family Indian Journal of Paediatric Dermatology cleft lip cleft palate ectodermal dysplasia ectrodactyly |
| title | Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family |
| title_full | Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family |
| title_fullStr | Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family |
| title_full_unstemmed | Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family |
| title_short | Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family |
| title_sort | ectrodactyly ectodermal dysplasia cleft lip palate syndrome variable presentation among first degree relatives of a family |
| topic | cleft lip cleft palate ectodermal dysplasia ectrodactyly |
| url | https://journals.lww.com/10.4103/ijpd.ijpd_112_24 |
| work_keys_str_mv | AT shivaniranjan ectrodactylyectodermaldysplasiacleftlippalatesyndromevariablepresentationamongfirstdegreerelativesofafamily AT nehaakhoon ectrodactylyectodermaldysplasiacleftlippalatesyndromevariablepresentationamongfirstdegreerelativesofafamily |