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Frontometaphyseal dysplasia

ORPHA1826
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Neonatal
ICD-10
  • Q78.5
OMIM
UMLS
  • C0265293
MeSH
  • C538064
MedDRA -

Summary

Frontometaphyseal dysplasia (FMD) is a form of frontootopalatodigital syndrome (see this term), characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, severe facial dysmorphism and conductive and sensorineural hearing loss.


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Detailed information

Clinical genetics review
  • EN (2013)
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