Scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome (also known as Finlay-Marks syndrome or SEN syndrome) is a rare genetic disorder characterized by a distinctive triad of abnormalities affecting the scalp, ears, and nipples. The condition is caused by mutations in the KCTD1 gene, which encodes a protein involved in transcriptional regulation. It is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene is sufficient to cause the disorder. The hallmark features include aplasia cutis congenita of the scalp (areas of absent skin on the scalp present at birth), malformed or underdeveloped ears (which may be small, cupped, or low-set), and absent, underdeveloped, or supernumerary nipples. Additional features may include nail dystrophy, dental anomalies (such as widely spaced teeth or missing teeth), syndactyly (webbing of fingers or toes), and renal malformations including renal agenesis or other structural kidney abnormalities. Some affected individuals may also have mild intellectual disability, though cognitive development is typically normal. Management of scalp-ear-nipple syndrome is symptomatic and supportive. Scalp defects usually heal spontaneously but may occasionally require surgical intervention if large or complicated by infection. Renal anomalies should be evaluated with imaging studies, as they can be clinically significant. Dental and hearing assessments are recommended. Genetic counseling is important for affected families given the autosomal dominant inheritance pattern and variable expressivity of the condition.

Common questions about Scalp-ear-nipple syndrome