Paula and Bobby
Parents of Lillie
Marshall syndrome (MRSHS)
What is Marshall syndrome (MRSHS)?
Marshall syndrome is a rare genetic syndrome that presents with unique facial features, eye anomalies, cataracts and hearing loss.
Males and females are affected by the syndrome in equal numbers.
What gene changes cause Marshall syndrome (MRSHS)?
Mutations in the COL11A1 gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Marshall syndrome (MRSHS)?
Unique facial features associated with the syndrome include a sunken midface, a flattened nasal bridge, nostrils that turn upward and widely spaced eyes.
Another symptom involves the presence of calcium deposits in the skull, as well as a thicker upper portion of the skull.
Common symptoms affecting the eyes include nearsightedness, cataracts (clouding of the eyes) and widely spaced eyes. Hearing loss is also common and may vary in its severity from person to person.
Possible clinical traits/features:
Sensorineural hearing impairment, Nystagmus, Osteoarthritis, Autosomal dominant inheritance, Vitreoretinal degeneration, Pierre-Robin sequence, Platyspondyly, Retinal detachment, Developmental cataract, Cleft palate, Esotropia, Epicanthus, Malar flattening, Coxa valga, Craniofacial hyperostosis, Glaucoma, Depressed nasal bridge, Genu valgum, Hypertelorism, Hypohidrosis, Hypoplasia of the zygomatic bone, Hypoplastic ilia, Short stature, Visual impairment, Absent frontal sinuses, Calcification of falx cerebri, Arthralgia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the eyebrow, Abnormal vitreous humor morphology, Meningeal calcification, Micrognathia, Myopia, Anteverted nares, Short nose, Macrodontia of permanent maxillary central incisor, Long philtrum, Low-set ears, Ulnar bowing, Radial bowing, Thickened calvaria, Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Abnormal hair quantity, Lens luxation, Small distal femoral epiphysis
How does someone get tested for Marshall syndrome (MRSHS)?
The initial testing for Marshall syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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