Breast fingernail syndromeQ87.2

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Mammary digital nail syndrome; MDN syndrome; Onycho-digito-mammary syndrome

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DefinitionThis section has been translated automatically.

The mammary fingernail syndrome (ORPHA238744) is an autosomal-dominantly inherited syndromal malformation of the limbs characterized by congenital onychodystrophy/anonychia, brachydactyly of the little finger, "digitalization" of the thumb and missing or hypoplastic end phalanges of the hands and feet. Furthermore, juvenile hypertrophy of the breast and gigantomasty in peripubertal girls have been described.

Occurrence/EpidemiologyThis section has been translated automatically.

ManifestationThis section has been translated automatically.

Newborn period, infancy

LiteratureThis section has been translated automatically.

  1. Genzer-Nir M et al (2010) Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosomes 22q12.3-13.1 Eur J Hum Genet 18: 662-67

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer