Marshall syndrome - PFAPA synonyms

Marshall syndrome is a rare genetic disorder that affects various parts of the body, including the skeletal system, eyes, and ears. It is characterized by distinctive facial features, short stature, joint abnormalities, and hearing loss. This condition is caused by mutations in the COL11A1 gene, which is responsible for producing a protein called collagen type XI alpha 1 chain.

Individuals with Marshall syndrome may have a range of symptoms and severity. Some common features include a flat midface, a small chin, a cleft palate, and a broad nose bridge. They may also experience vision problems such as nearsightedness or astigmatism, as well as hearing loss due to abnormalities in the middle ear.

One of the key features of Marshall syndrome is its similarity to another condition called PFAPA syndrome. PFAPA stands for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. It is a periodic fever syndrome that primarily affects children. PFAPA episodes typically involve recurrent episodes of high fever, sore throat, mouth ulcers, and swollen lymph nodes in the neck.

While Marshall syndrome and PFAPA syndrome share some similarities, it is important to note that they are distinct conditions with different underlying causes. Marshall syndrome is a genetic disorder, whereas PFAPA syndrome is thought to be related to an abnormal immune response. The two conditions can be differentiated through genetic testing and clinical evaluation.

In summary, Marshall syndrome is a rare genetic disorder characterized by skeletal abnormalities, facial features, and hearing loss. It should not be confused with PFAPA syndrome, which is a periodic fever syndrome primarily affecting children. Proper diagnosis and management of these conditions are crucial for providing appropriate medical care and support to individuals affected by them.