MeSH Browser

MeSH Supplementary: Dyggve-Melchior-Clausen syndrome
Unique ID: C535726
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535726
Entry Term(s): Dyggve-Melchior-Clausen Disease; Dyggve-Melchior-Clausen Syndrome, X-Linked; Dyggve-Melchior-Clausen syndrome X linked; X-linked Dyggve-Melchior-Clausen syndrome
Registry Number: 0
Heading Mapped to: *Dwarfism; *Intellectual Disability; Osteochondrodysplasias / *congenital
Frequency: 15
Note: A rare, autosomal recessive, progressive genetic condition characterized by short stature, abnormal skeletal development, MICROCEPHALY; and INTELLECTUAL DISABILITY. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Mutations in the DYM gene have been identified. OMIM: 223800
Date of Entry: 2010/08/25
Revision Date: 2015/09/26

Dyggve-Melchior-Clausen syndrome MeSH Supplementary Concept Data 2024