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Dyggve-Melchior-Clausen syndrome
Epidemiology: rare
Pathology:
- electron microscopy
- cutaneous cells of affected patients show
- dilated rough endoplasmic reticulum
- enlarged & aberrant vacuoles
- numerous vesicles
Genetics:
1) autosomal recessive
2) associated with defect in dymeclin gene
Clinical manifestations:
1) short trunk dwarfism
2) microcephaly
3) psychomotor retardation
4) progressive disorder
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 223800
References
OMIM :accession 223800