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Scalp-ear-nipple syndrome
rareScalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
- Identifiers
- MONDO:0008404 OMIM:181270Orphanet:2036
- Causal genes
- KCTD1
- Part of
- Ectodermal dysplasia syndromeMixed dermis disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Finlay-Marks syndrome · hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples · scalp ear nipple syndrome · Sen syndrome · SENS
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