Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and missing lower eyelashes.[2] It 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.[3] The range and severity of symptoms may vary from case to case.
Setleis syndrome | |
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Other names | FFDD3[1] |
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Setleis syndrome is said to be inherited in an autosomal recessive manner. | |
Specialty | Dermatology |
Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive genetic trait due to mutations in the TWIST2 gene.
The differential diagnosis of Setleis syndrome includes X-linked focal dermal hypoplasia, or Goltz syndrome; a syndrome of focal dermal hypoplasia, morning glory anomaly, and polymicrogyria; incontinentia pigmenti; oculocerebrocutaneous syndrome; Rothmund–Thomson syndrome; and MLS (microphthalmia with linear skin defects) syndrome caused by deletions or point mutations in the HCCS gene.
See also
editReferences
edit- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Focal facial dermal dysplasia type III". www.orpha.net. Retrieved 27 April 2019.
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: CS1 maint: numeric names: authors list (link) - ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Setleis Syndrome".