Disease Information for Dyggve-Melchoir-Clausen dysplasia

Dyggve Melchior Clausen Syndrome; DMC Disease; DMC Syndrome;

Smith-McCort Dysplasia;Smith-McCort Syndrome; Dyggve-Melchior-Clausen (DMC) syndrome is a rare genetic disorder characterized by abnormal skeletal development and mental retardation; Symptoms may include growth deficiency resulting in short stature, various skeletal abnormalities, and mental retardation; DMC is inherited as an autosomal recessive trait; A variant of DMC syndrome, known as Smith McCort dysplasia, is characterized by similar abnormal skeletal development, but without mental deficiencies; Smith-McCort syndrome has an X-linked recessive inheritance pattern-----------[NORD 2005]---------------

The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive pattern of bone changes; The radiographic features seen in the 15 patients described in this report include platyspondyly with notched end plates of the vertebral bodies, small ilia with broad, frequently lacy crests, lateral displacement of the capital femoral epiphyses, and accessory ossification centers of the first metacarpals, proximal and middle phalanges;

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Dyggve’s syndrome; Dyggve-Melchior-Clausen dwarfism; Smith-McCort dwarfism; A familial skeletal disorder characterised by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers and mental retardation; Short stature noted by 18 months of age; Very rare, over 50 cases reported; Inheritance is autosomal recessive; Increased incidence in Lebanon, Greenland, and Norway; Dyggve-Melchior-Clausen syndrome without mental retardation is referred to as Smith-McCort dwarfism

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