" /> Scalp-ear-nipple syndrome - CISMeF





Preferred Label : Scalp-ear-nipple syndrome;

Symbol : SENS;

CISMeF acronym : SENS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sen syndrome; Finlay-marks syndrome;

Description : Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel tetramerization domain-containing 1 (KCTD1, 613420.0001);

Prefixed ID : #181270;

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29/07/2025


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