Synonyms: Finlay-Marks syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp breast anomalies ranging from hypothelia or athelia to amastia and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies syndactyly and camptodactyly of fingers and/or toes sparse or absent secondary sexual hair renal malformations and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
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National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
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