X-linked cutis laxa; occipital horn syndrome

Pathology

• disorder of copper metabolism

Genetics

• X-linked recessiv
• associated with mutation in ATP7A gene

Clinical manifestations

• unusual facial appearance
• skeletal abnormalities
  • occipital horns
  • short, broad clavicles
  • deformed radiuse, ulna & humerus
  • narrowing of the rib cage
  • undercalcified long bones with thin cortical walls
  • coxa valga
• chronic diarrhea
• genitourinary defects

Laboratory

• ATP7A gene mutation

More general terms

• cutis laxa; elastolysis; loose skin; pachydermatocele

Additional terms

• copper transporting ATPase-1; copper pump-1; Cu+2-transporting ATPase alpha polypeptide; Menke's disease-associated protein (ATP7A, MNK)

Database

• OMIM: https://mirror.omim.org/entry/304150
• OMIM: https://mirror.omim.org/entry/300011