Focal Facial Dermal Dysplasia 3, Setleis Type

Alternative Names

  • FFDD3
  • Setleis Syndrome
  • Bitemporal Forceps Marks Syndrome
  • Facial Ectodermal Dysplasia
  • Focal Facial Dermal Dysplasia, Type II
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

227260

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q37.3

Description

Setleis syndrome is an extremely rare autosomal recessive disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasia syndromes are a heterogeneous group of disorders that share primary defects in the development of two or more tissues derived from ectoderm. These tissues are, primarily, the skin, hair, nails, eccrine glands, and teeth. Setleis syndrome is characterized by cutis aplasia or atrophic skin at the temples, which is said to resemble forceps marks. There may also be a coarse facial appearance, anomalies of the eyelashes and eyebrows, and periorbital puffiness. The mouth has a typical appearance with large lips, inverted "V" contour, and down turned overly defined corners.

Setleis syndrome results from mutations in the TWIST2 gene, which encodes a transcription factor that functions as an important regulator of gene expression during the differentiation of mesenchymal stem cells.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
227260.G.1OmanYesYes Abnormality of the chin; Absent lower e...NM_057179.3:c.193C>THomozygousAutosomal, RecessiveTukel et al. 2010 Two affected first c...

Other Reports

Oman

In 1996, Al-Gazali and Al-Talabani described two cases of Setleis syndrome in a consanguineous Omani family. The mother of the female proband had mild dysmorphic features reminiscent of this syndrome such as a large nose with a long septum, a short philtrum, and macrostomia. The proband presented at birth with two small pressure points on both temporal areas. Examination at 11 months of age revealed the following dysmorphic features: bitemporal focal dermal defects, short palpebral fissures, puffy and wrinkly skin around the eyes, a short philtrum, and low-set ears. The father of the affected male had bitemporal scars, but no other characteristics of the syndrome. The proband, a 19-year-old male, revealed the following dysmorphic features: coarse features, bitemporal focal dermal defects, absent eyelashes on the lower lid, puffy skin around the eyes, a large nose, and bow-shaped lips with down-turned corners and a tram-line crease below the lower lips. Al-Gazali and Al-Talabani (1996) concluded that the manifestations in heterozygotes may represent clinical abnormalities or be the result of reduced penetrance of an autosomal dominant gene.

Tukel et al. (2010) included the Omani family in a larger study to identify the locus responsible for Setleis syndrome. They were able to use the haplotype data from the Omani family to narrow down the locus to an 8cM region on chromosome 2q, before being able to identify causal homozygous mutations in the TWIST2 gene in this locus.

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