Waardenburg's syndrome I

Related people

Acrocephalosyndactyly characterised by multiple congenital abnormalities.

Description

An acrocephalosyndactyly syndrome variously termed acrocephalosyndactyly type III, IV or V. It is characterized by the lack of osseous fusion of the short tubular bones, oligodactyly of the feet, and systemic abnormalities, such as short stature, pericardial cysts, rectal prolapse, and deformed ears. Inheritance is autosomal dominant.

Bibliography

  • P. J. Waardenburg:
    Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen.
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44.

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