Frontometaphyseal dysplasia

Disease Export to PDF
Name:
Frontometaphyseal dysplasia
Description:
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.
ORPHAcode:
1826
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14