Marshall syndrome

Genetics

• autosomal dominant
• associated with defects in COL11A1

Clinical manifestations

• ocular, orofacial, auditory & skeletal manifestations

Radiology

• neuroimaging: intracranial calcification

Differential diagnosis

• shares several features with Stickler syndrome, such as
  • midfacial hypoplasia
  • myopia
  • sensorineural deafness

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/154780
• OMIM: https://mirror.omim.org/entry/120280