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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
General
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
OMIM :accession 154780