Kearns–Sayre syndrome

Also known as: KSS

Onset before 20 with PEO and pigmentary retinopathy.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset before age 20 by definition
Gene(s) involved: None recorded

Etiology & mechanism

Large-scale mtDNA deletion.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (8)

ataxiacsf protein elevationdeafnessendocrinopathyheart blockpigmentary retinopathyprogressive external ophthalmoplegiashort stature

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