Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and missing lower eyelashes. It belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the

hair Hair is a protein filament that grows from follicles found in the dermis. Hair is one of the defining characteristics of mammals. The human body, apart from areas of glabrous skin, is covered in follicles which produce thick terminal and ...

, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (

congenital A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

). Most affected infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when

forceps Forceps (: forceps or considered a plural noun without a singular, often a pair of forceps; the Latin plural ''forcipes'' is no longer recorded in most dictionaries) are a handheld, hinged instrument used for grasping and holding objects. Forcep ...

are used to assist delivery. 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 In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

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.

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{{Medical resources , ICD10 = Q82.8 , ICD9 = , ICDO = , OMIM = 227260 , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = C536385 , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 1807 , SNOMED CT = 403771007 Conditions of the skin appendages Syndromes affecting the skin

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