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

• autosomal recessive
• associated with defect in dymeclin gene

Clinical manifestations

• short trunk dwarfism
• microcephaly
• psychomotor retardation
• progressive disorder

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/223800