Scalp–ear–nipple syndrome
human disease
Scalp–ear–nipple (SEN) syndrome (also known as Finlay–Marks syndrome) is a condition associated with aplasia cutis congenita.
Presentation
The key affected features of this condition are described in its name.
Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair-bearing skin.
Ears: The shape of the pinnae is abnormal, with the superior edge of the pinnae being turned over more than usual. The size of the tragus, antitragus and lobule may be small.
Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent.
Other features of the condition include:
Dental abnormalities, such as missing or widely spaced teeth
Syndactyly, where toes or fingers may be partially joined proximally
Renal abnormalities, such as renal hypoplasia or pyeloureteral duplication
Eye abnormalities, such as cataracts, coloboma of the iris, and asymmetric pupils.
Genetics
Candidate genes were identified for SEN syndrome by probing gene expression databases using simple descriptors of the main organs affected. SEN syndrome is caused by potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations.
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This entry incorporates text from “Scalp–ear–nipple syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.