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Article

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

American journal of medical genetics. Part A - 1 Mar 2020

Boschann Felix, Stuurman Kyra E, de Bruin Christiaan, van Slegtenhorst Marjon, van Duyvenvoorde Hermine A, Kant Sarina G, Ehmke Nadja

Abstract excerpt

Catel-Manzke syndrome, also known as micrognathia-digital-syndrome, is a rare autosomal recessive disorder characterized by the combination of the two cardinal features Pierre-Robin sequence and bilateral hyperphalangy leading to ulnar clinodactyly (ulnar curvature of the phalanges) and radial deviation (radial angulation at the metacarpophalangeal joint) of the index fingers. Individuals without one of these...

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Identifiers

PMID: 31769200
DOI: 10.1002/ajmg.a.61419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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