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Setleis Syndrome

Abstract

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Synonyms of Setleis Syndrome

  • Bitemporal Forceps Marks Syndrome
  • Facial Ectodermal Dysplasia
  • FFDD Type II
  • Focal Facial Dermal Dysplasia Type II

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Setleis syndrome is an extremely rare inherited disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). Most affected infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when forceps are used to assist delivery. In addition, affected infants may have puffy, wrinkled skin around the eyes (periorbital) and/or abnormalities of the eyelashes, eyebrows, and eyelids. Infants with Setleis syndrome may be missing eyelashes on both the upper and lower lids, or they may have multiple rows of lashes on the upper lids but none on the lower lids. In addition, in some cases, the bridge of the nose may appear flat, while the tip may appear unusually rounded (bulbous). Affected infants often have loose, excessive (redundant) skin, particularly in the area of the nose and the chin. Due to such facial abnormalities, infants with Setleis syndrome may have an aged and/or "leonine" (lion-like) appearance. The range and severity of symptoms may vary from case to case. Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive genetic trait.

Organizations related to Setleis Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., skin abnormalities, craniofacial malformations, etc.].)

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