Disease Information for Dyggve-Melchoir-Clausen dysplasia

Clinical Manifestations
Signs & Symptoms
Clawed fingers deformity
Mental Deficiency Child
Bowlegged/Genu varus
Genu valgus/knockneed/sign
Lumbar lordosis/excess
Small hands/feet
Sternum deformities
Trunk shorted/deformity
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Icelander/Greenland population
Lebanese Population
Norwegian population
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings - Increased
Alpha-2 globulin level (Lab)
Diagnostic Test Results
Xray/Hands Accessory ossification centers
Xray/Lateral Displacement Capital Femoral epiphysis
Xray/Skeletal findings
Xray/Small ilia lacy crests
Xray/Spine, squaring of vertebrae
Xray/Spondyloepiphyseal dysplasia (spine)
Xray/Vertebral bodies flattened deformity
Xrays/Vertebrae Notched End plates
Associated Diseases & Rule outs
Rule Outs
Hurler's mucopolysaccharidosis syndrome
Associated Disease & Complications
Atlanto/odontoid dislocation/fracture
Hip subluxation
Knee varus/genu varus deformity
Mental retardation
Pectus carinatum/pigeon chest
Skeletal dysplasia
Skeletal/bone malformations
Hand anomalies
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Skeletal (category)
Pathophysiology/Gene locus Chromosome 18q
Pathophysiology/Hereditary variance/ X-linked not always
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Eponymic (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Dyggve Melchoir Clausen dysplasia, Synonym/DMC disease, Synonym/Dyggve-Melchior-Clausen syndrome, Synonym/Smith-McCort dwarfism variant (no MR), Synonym/Smith-McCort Dysplasia (Var)

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;

----------[Radiology Archives 1975]------------

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



External Links Related to Dyggve-Melchoir-Clausen dysplasia
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)