Myhre syndrome: a rare craniofacial disorder

Area of Science:

• Genetics and Developmental Biology
• Pediatric Dentistry
• Craniofacial Medicine

Background:

• Myhre syndrome is a rare genetic disorder causing abnormal skeletal, muscle, and joint growth.
• The impact of Myhre syndrome on craniofacial development remains largely uncharacterized.

Observation:

• A 10-year-old Japanese patient with Myhre syndrome presented with significant craniofacial anomalies.
• Observed features included a long lower face, high-arched palate with submucous cleft, maxillary constriction, prognathism, open bite, and dental crowding.

Findings:

• Craniofacial findings correlate with generalized Myhre syndrome characteristics like muscle hypertrophy and bone thickening.
• Potential genetic links to SMAD4 signaling pathways are suggested for submucous cleft palate and dental anomalies.

Implications:

• Craniofacial and dental manifestations are significant indicators of Myhre syndrome.
• Understanding these features can aid in earlier diagnosis and management of Myhre syndrome.