Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

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Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Synonyms: Johnson-Munson syndrome

An extremely rare congenital limb malformation syndrome described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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