2. Academic Validation
  3. Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS

  • Mol Genet Metab Rep. 2015 Sep 1;4:89-91. doi: 10.1016/j.ymgmr.2015.08.003.
Rachel Pferdehirt 1,  Mahim Jain 1,  Maria A Blazo 2,  Brendan Lee 1,  Lindsay C Burrage 1
Affiliations

Affiliations

  • 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.
  • 2 Department of Genetics, Baylor Scott & White Health, Texas A&M Health Science Center College of Medicine, Temple, Texas, USA 76508.
PMID: 26366375 DOI: 10.1016/j.ymgmr.2015.08.003
Abstract

Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy, and we compare his phenotype with the seven previously described patients with pathogenic variants in TGDS. Our patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. Furthermore, our finding of a homozygous p.Ala100Ser pathogenic variant in our patient supports that it is a common mutation in Catel-Manzke syndrome.

Keywords

Catel-Manzke syndrome; Manzke dysostosis; Pierre Robin sequence; TGDS; hyperphalangy.

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