Synonym(s)
Mammary digital nail syndrome; MDN syndrome; Onycho-digito-mammary syndrome
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.
- 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
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer