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Marshall syndrome

ORPHA560
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.0
OMIM
UMLS
  • C0265235
MeSH
  • C536025
MedDRA -

Summary

Disease definition

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

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