Menkes syndrome

Also known as: Kinky hair disease

X-linked copper transport disorder with kinky hair and neurodegeneration.

Medical specialty: Genetics
Subspecialty: Genetics / Metabolic disorders
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes, 2–3 months
Gene(s) involved: ATP7A

Etiology & mechanism

ATP7A copper transporter defect.

Gene(s) involved (1)

ATP7A

Symptoms & signs (6)

connective tissue defectsdevelopmental regressionfailure to thrivehypotoniakinky hairseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.