Marshall syndrome is a condition in which the patient has abnormalities of the face, eyes, ears and skeleton. The treatment of this genetic condition mainly consists of surgery, various therapies and aids. Although the range of symptoms is highly variable, the outlook of patients with this rare syndrome is usually excellent. The physician D. Marshall first described the disease in the medical literature in 1958.
- Synonyms Marshall syndrome
- Epidemiology condition
- Causes and heredity
- Symptoms of the face, eyes, ears and skeleton
- Diagnosis and examinations
- Treatment of abnormalities
- Prognosis is excellent
Synonyms Marshall syndrome
The Marshall syndrome is also known as “deafness-myopia-cataract-saddle nose, Marshall type”. The abbreviation used for this syndrome is “MRSHS”.
Epidemiology condition
Marshall syndrome affects men and women in equal numbers. No further epidemiological data was found in the literature consulted.
Causes and heredity
Marshall syndrome is a genetic condition in which mutations (changes) occur in the COL11A1 gene. In this autosomal dominant disease, the child inherits the mutation directly from a parent. Just one copy of the mutated gene is enough to cause the condition.
Symptoms of the face, eyes, ears and skeleton
Sight
The patient exhibits a thicker than normal skull roof, in which calcium deposits can be found. Sometimes the frontal sinuses are missing. Furthermore, the patient’s mid-face is flat and sunken. The patient’s nose also shows various abnormalities: a saddle nose (nasal deformity with collapse of the nasal bridge), an inverted nasal bridge and nostrils and a smaller than normal or missing nasal bone are typical nasal abnormalities. The lips are well filled. The upper incisors protrude forward, leading to an overbite. Furthermore, the patient has a small lower jaw. Cleft lip or palate (cleft) are also commonly reported. Finally, the patient has little hair on the eyelashes and eyebrows.
Eyes
Most patients are very nearsighted (myopia). The vitreous (the jelly-like mass at the back of the eye) slowly dies, increasing the risk of retinal detachment (ablatio retinae). Some patients are born with cataracts, while others develop this eye disease in adolescence. In addition, some patients suffer from strabismus, a displaced eye lens (ectopia lentis, lens dislocation) or glaucoma (increased eye pressure). Finally, the patient’s eyes are far apart (hypertelorism).
Ears
Mild to severe hearing loss is common and may occur very early (even during the first year of life). The distortion of the sound is the result of nerve damage and therefore sensorineural hearing loss occurs. The hearing loss is progressive and therefore patients no longer hear higher tones well as they get older. Patients with the syndrome are also more susceptible to infections, which temporarily impairs hearing ability. Due to hearing loss, the patient’s development is sometimes delayed and the patient has learning problems.
Skeleton
Many patients have a short and stocky appearance. The skeletal abnormalities cause the patient to have stiff joints. Osteoarthritis (rheumatic disease of articular cartilage with pain, stiffness, joint noise and hardness) of the knees and spine begins during adulthood.
Other symptoms
Additional symptoms that are often present include decreased sweating and thin hair.
Diagnosis and examinations
Diagnostic research
A pediatrician and ophthalmologist are required to make the diagnosis. An X-ray shows numerous bone deformities, especially in the face and skull. The doctor also performs an MRI scan of the brain. The ophthalmologist also conducts a thorough eye examination to identify eye abnormalities. The diagnosis of Marshall syndrome is confirmed by genetic testing.
Differential diagnosis
The range of symptoms of the following conditions and syndromes resemble those of Marshall syndrome and are therefore useful for a differential diagnosis:Congenital spondyloepiphyseal dysplasia In this condition, growth retardation occurs before birth with deformities of the back and/or abnormalities of the eyes.Congenital syphilis The symptoms of the chronic infectious disease syphilis do not appear until weeks or sometimes years after birth. Typical features of congenital syphilis include fever, skin problems and low birth weight. Later symptoms include bone pain, dental abnormalities, blurred vision (reduced visual acuity), eye pain, insensitivity to light, a saddle nose, a bony protrusion of the forehead, a short upper jaw and deafness.Stickler syndrome In Stickler syndrome, a connective tissue disorder, mutations occur in the same gene that affect the eyes, skeleton, inner ear and/or head and face.Wagner syndrome Degeneration of the vitreous humor in the eye and cataract occur in this autosomal dominant disorder. Retinal detachment occurs sporadically in Wagner syndrome.Important note Marshall syndrome is not the same as Marshall-Smith syndrome because in the latter condition patients have a large height.
Treatment of abnormalities
Marshall syndrome has no proven effective treatment, and therefore a multidisciplinary team of physicians is needed to provide supportive and symptomatic treatments. Sometimes cataract surgery is required when cataracts are present. A retinal detachment can also be treated surgically via pneumatic retinopexy or scleral buckling. A hearing aid treats any hearing loss. Speech therapy and physiotherapy are often necessary for the patient to stimulate the patient’s development. Furthermore, plastic surgery is useful in correcting saddle nose. Finally, dental treatment is required in a number of patients.
Prognosis is excellent
Life expectancy is not affected by the disease. In addition, most patients’ vision is quite good to normal after eye treatments.
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- Nearsightedness (myopia): Blurred vision of objects at a distance
- Retinal detachment: Detachment of the retina from the eye
- Glaucoma: Increased eye pressure with vision loss
- Ectopia lentis: Displacement of the lens of the eye
- Ocular hypertelorism: Widely spaced eyes