Skeletal dysplasia

Gene: DYM

Green List (high evidence)

Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.

Created: 6 Dec 2021, 10:07 a.m. | Last Modified: 6 Dec 2021, 10:07 a.m.

Panel Version: 0.10156

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800

Publications

• 12491225
• 12554689
• 16470731
• 19005420