Menke-Hennekam syndrome (MKHK) is a rare autosomal dominant disorder caused by mutations in the CREBBP and EP300 genes. The absence of established diagnostic criteria and non-specific clinical manifestations complicate timely diagnosis and management....
No actionable change for routine audiology practice; this single case report illustrates the diagnostic potential of rapid whole-genome sequencing for rare syndromes with hearing involvement, but does not establish a new clinical standard.
Rapid whole-genome sequencing is beginning to compress diagnostic timelines for rare syndromic conditions that include hearing loss, which could eventually reshape referral pathways in genetic audiology.
- 01Rapid whole-genome sequencing cut diagnosis time from weeks to hours for Menke-Hennekam syndrome.
- 02Menke-Hennekam syndrome is caused by mutations in the CREBBP or EP300 genes and follows an autosomal dominant inheritance pattern.
- 03Published as a case report in Journal of Medical Case Reports (2026).
- 04Single-case evidence; findings cannot be generalised without further study.
- 05Highlights a growing role for genomic medicine in the workup of rare syndromic hearing loss.
Rapid whole-genome sequencing reduced the diagnostic timeline for Menke-Hennekam syndrome from weeks to hours.
studypartially supportedMenke-Hennekam syndrome is a rare autosomal dominant disorder caused by CREBBP/EP300 mutations.
guidelinesupported- PMID
- 42251442
- DOI
- 10.1186/s13256-026-06163-z.
- Journal
- Journal of Medical Case Reports
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Individual patient diagnosed with Menke-Hennekam syndrome
- Intervention
- Rapid whole-genome sequencing for syndromic diagnosis
Primary outcomes
Time to definitive genetic diagnosis; Identification of causative CREBBP/EP300 variant