Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer–Setleis syndrome)

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 4; pp. 746 - 750
• Main Authors: Graul‐Neumann, Luitgard M., Stieler, Karola M., Blume‐Peytavi, Ulrike, Tzschach, Andreas
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2009; Wiley-Liss
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adult; autosomal dominant; Biological and medical sciences; Brauer syndrome; Child, Preschool; Ear, External - abnormalities; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia - pathology; Eyebrows - abnormalities; Eyelashes - abnormalities; Eyelids - abnormalities; Face; Female; Focal Dermal Hypoplasia - genetics; Focal Dermal Hypoplasia - pathology; focal facial dermal dysplasia; forceps marks syndrome; Genes, Dominant; Germany; Humans; Male; Medical genetics; Medical sciences; Middle Aged; nystagmus; Nystagmus, Congenital - genetics; Oculomotor disorders; Ophthalmology; Pedigree; Setleis syndrome; Setleis–Brauer syndrome; Syndrome; Germany; Dysplasia; Setleis-Brauer syndrome; Family study; Inheritance; forceps marks syndrome; focal facial dermal dysplasia; Brauer syndrome; Genetic disease; Eye disease; Autosomal character; Nystagmus; Family environment; Dominant character; Setleis syndrome; Inheritance(genetics); Oculomotor syndrome; Derm; Face; autosomal dominant; Forceps
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32728

Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar‐like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a large multi‐generational German family with typical characteristics of FFDD and provide a detailed clinical description of four affected individuals. They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low‐set ears. Three of the four affected individuals had congenital horizontal nystagmus, which had hitherto only been reported in a single patient with FFDD. In contrast to previous assumptions about an autosomal recessive etiology of this disorder, this family provides further evidence that FFDD is inherited in an autosomal dominant mode. Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder. © 2009 Wiley‐Liss, Inc.