Setleis Syndrome
Patient Information
Characteristics
Background and History
This is a rare and unusual hereditary disorder with skin changes similar to those found in several other conditions. It is sometimes called 'facial ectodermal dysplasia' syndrome because of the unusual appearance of the facial skin. The facial appearance has also been described as leonine or lion-like.
Clinical Correlations
Focal ectodermal dysplasia implies that this is a localized skin disease which it is. Only the facial skin is involved. The skin about the eyes may be puffy, wrinkled or puckered and often the bridge of the nose is flattened and the tip is prominent. The eyebrows slope upward to the side and eyelashes may be absent or duplicated. Other features such teeth anomalies and mental deficits have also been reported but these are rare or not part of the presumed syndrome.
Genetics
Inheritance
There is a good basis for consideration of Setleis syndrome II as an autosomal dominant condition requiring the presence of a specific mutation. Thus this condition can be passed in a vertical pattern from parent to child and the risk to each offspring is 50%. The clinical signs are often subtle and easily missed in parents.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
This condition is most likely to be recognized by a medical geneticist or a pediatrician. No treatment has been reported.
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