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Marshall syndrome
rareMarshall 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.
- Identifiers
- MONDO:0007949 OMIM:154780Orphanet:560
- Causal genes
- COL11A1
- Part of
- Ectodermal dysplasia syndromeEye disorderMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySpondyloepiphyseal dysplasia
- Also known as
- deafness, myopia, cataract, saddle nose-Marshall type · MRSHS
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