{"id":1000,"date":"2017-06-29T18:55:58","date_gmt":"2017-06-29T18:55:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1000"},"modified":"2026-02-24T21:05:11","modified_gmt":"2026-02-24T21:05:11","slug":"the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/29\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\/","title":{"rendered":"The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen)"},"content":{"rendered":"<p>Focal Facial Dermal Dysplasias (FFDDs) are four developmental genetic disorders with similar bilateral \u201cscar-like\u201d facial lesions at birth and are classified by the lesion location: bitemporal for the FFDD subtypes 1-3 and peri-auricular for FFDD subtype 4. This review summarizes the clinical features of the subtypes and the genetic defects underlying FFDD3 and FFDD4, while the underlying genetic defects in FFDD1 and FFDD2 remain unknown. Additionally, two autosomal dominant developmental disorders with overlapping facial lesions, Ablepharon-Macrostomia syndrome and Barber-Say syndrome, are discussed. Recognition of these disorders and further investigation of their genetic defects may provide insights into the genetic pathways of facial development. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/06\/29\/jmedgenet-2017-104561\">http:\/\/jmg.bmj.com\/content\/early\/2017\/06\/29\/jmedgenet-2017-104561<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Focal Facial Dermal Dysplasias (FFDDs) are four developmental genetic disorders with similar bilateral \u201cscar-like\u201d facial lesions at birth and are classified by the lesion location: bitemporal for the FFDD subtypes 1-3 and peri-auricular for FFDD subtype 4. This review summarizes the clinical features of the subtypes and the genetic defects underlying FFDD3 and FFDD4, while [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/29\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\/\">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-1000","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen) - 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\/2017\/06\/29\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Focal Facial Dermal Dysplasias (FFDDs) are four developmental genetic disorders with similar bilateral \u201cscar-like\u201d facial lesions at birth and are classified by the lesion location: bitemporal for the FFDD subtypes 1-3 and peri-auricular for FFDD subtype 4. This review summarizes the clinical features of the subtypes and the genetic defects underlying FFDD3 and FFDD4, while [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/29\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-06-29T18:55:58+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:05:11+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\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen)\",\"datePublished\":\"2017-06-29T18:55:58+00:00\",\"dateModified\":\"2026-02-24T21:05:11+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/\"},\"wordCount\":125,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/29\\\/the-focal-facial-dermal-dysplasias-phenotypic-spectrum-and-molecular-genetic-heterogeneity\\\/\",\"name\":\"The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (Contributed by Brenden Chen) - 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