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Article

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2026

Halis Meryem, Kocabey Mehmet, Sarıoğlu Fatma Ceren, Süncak Suzan, Bilen Merve, Arslan Nur, Gürsoy Semra, Uçar Handan Güleryüz, Ülgenalp Ayfer, Bozkaya Özlem Giray

Abstract excerpt

OBJECTIVES: Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive skeletal dysplasia caused by mutations in the DYM gene. It is characterized by progressive spondyloepimetaphyseal dysplasia, short stature, coarse facial features, microcephaly and intellectual disability. While it clinically resembles Morquio syndrome (mucopolysaccharidosis type IV, MPS IV), DMC is distinguished by cognitive...

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Identifiers

PMID: 41549465
DOI: 10.1515/jpem-2025-0505

Genes

DYM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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