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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
Prevalence
Worldwide: <1 in 1,000 000
Age of Onset
Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.