{"id":267,"date":"2012-03-05T19:50:12","date_gmt":"2012-03-05T19:50:12","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=267"},"modified":"2026-02-25T20:43:22","modified_gmt":"2026-02-25T20:43:22","slug":"setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/03\/05\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\/","title":{"rendered":"Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification (Contributed by Amy Yang, MD)"},"content":{"rendered":"<p>Setleis syndrome, a type of focal facial derma dysplasia (FFDD), is a genetic abnormality involving fetal development of the face.\u00a0 Setleis syndrome may have several genetic causes, but two mutations in the <em>TWIST2<\/em> gene have been identified previously.\u00a0 Patients are born with scar-like, \u201cforcep\u201d marks in their temporal regions along with other syndromic features. \u00a0 Two Mexican siblings with the typical Setleis features were found to have a third TWIST2 mutation, further confirming the recessive inheritance of the disorder.\u00a0\u00a0 Of note, relatives who are only carriers for the mutation also have subtle syndromic features.\u00a0 A review of all previously reported FFDD cases resulted in a re-classification of the subtypes. (<a href=\"http:\/\/jmg.bmj.com\/content\/48\/10\/716\">http:\/\/jmg.bmj.com\/content\/48\/10\/716<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Setleis syndrome, a type of focal facial derma dysplasia (FFDD), is a genetic abnormality involving fetal development of the face.\u00a0 Setleis syndrome may have several genetic causes, but two mutations in the TWIST2 gene have been identified previously.\u00a0 Patients are born with scar-like, \u201cforcep\u201d marks in their temporal regions along with other syndromic features. \u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/03\/05\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-267","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification (Contributed by Amy Yang, MD) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/03\/05\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification (Contributed by Amy Yang, MD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Setleis syndrome, a type of focal facial derma dysplasia (FFDD), is a genetic abnormality involving fetal development of the face.\u00a0 Setleis syndrome may have several genetic causes, but two mutations in the TWIST2 gene have been identified previously.\u00a0 Patients are born with scar-like, \u201cforcep\u201d marks in their temporal regions along with other syndromic features. \u00a0 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/03\/05\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-03-05T19:50:12+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:43:22+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification (Contributed by Amy Yang, MD)\",\"datePublished\":\"2012-03-05T19:50:12+00:00\",\"dateModified\":\"2026-02-25T20:43:22+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/\"},\"wordCount\":145,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/03\\\/05\\\/setleis-syndrome-in-mexican-nahua-sibs-due-to-a-homozygous-twist2-frameshift-mutation-and-partial-expression-in-heterozygotes-review-of-the-focal-facial-dermal-dysplasias-and-subtype-reclassification\\\/\",\"name\":\"Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification (Contributed by Amy Yang, MD) - 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