Marshall syndrome

Marshall syndrome is a malformation syndrome that mainly affects the face, eyes, ears, and bones. People with this condition often show unusual facial features such as a saddle nose with severe underdevelopment of the nasal bones and frontal sinuses. There is also ocular involvement, which can affect vision, and early-onset hearing loss has been noted. In addition to these features, individuals may experience skeletal issues including short stature, spondyloepiphyseal dysplasia, and early-onset osteoarthritis. There may also be anomalies in the ectoderm, such as anhidrosis, which means reduced or absent sweat gland function. This summary is based on the provided definition and related sources.

People with Marshall syndrome can have a range of symptoms. These may include distinctive facial features with a saddle nose, underdeveloped nasal bones and frontal sinuses, eye issues, early-onset hearing loss, and skeletal abnormalities such as short stature, spondyloepiphyseal dysplasia, and early-onset osteoarthritis. There can also be skin or sweat gland anomalies due to ectodermal abnormalities.

Marshall syndrome is associated with genetic changes, particularly involving the COL11A1 gene. This gene plays a role in the development of connective tissues, which can explain the variety of physical changes seen in the condition. The specific reasons why these genetic changes lead to the full range of symptoms seen in this syndrome are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.