Frontometaphyseal dysplasia

What is Frontometaphyseal dysplasia?

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

Inheritance type

Autosomal dominant, X-linked dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.