In-depth insights into various childhood syndromes and disorders.
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Mandibuloacral Dysplasia with Lipodystrophy syndrome is considered to be a very rare disease. Some of its main symptoms include an underdeveloped lower jaw and collarbone. Partial lipodystrophy, when there is a loss of body fat from different parts of the body is also characteristic of the syndrome. This may also cause the presence of symptoms […]
Mandibulofacial Dysostosis, Guion-Almeida Type is a rare genetic syndrome that may also be referred to as Mandibulofacial Dysostosis with microcephaly. It primarily affects the head and face. Speech and language delays and intellectual disability are common features of the condition. There are just 126 cases of the syndrome reported worldwide to date. This syndrome is […]
Manitoba Oculotrichoanal syndrome is a rare condition characterized by multiple congenital anomalies, most commonly affecting the nose, eyes, gastrointestinal system, and genitourinary system. Syndromes vary between affected individuals but generally relate to the eyes, hair, and anus. The syndrome has been mainly diagnosed in the residents of a very isolated community in northern Manitoba, Canada. […]
Alpha-Mannosidosis syndrome is a rare genetic disorder that affects multiple organs and systems of the body. Common symptoms include skeletal abnormalities, characteristic facial features, and intellectual disability. Symptoms vary in severity from mild to severe. The early-onset form of the syndrome means infants generally do not survive past childhood. Those with a milder form of […]
Marden-Walker syndrome is a rare genetic disease that presents with psychomotor retardation. One of the defining features of the syndrome is a mask-like face. This rare connective disorder is present at birth and affects males more than females. This syndrome is also known as: MWS. The gene responsible for causing the syndrome is the PIEZO2 […]
Marfan syndrome is a genetic disorder that affects mainly the connective tissue in the body. Connective tissue can be found throughout the body, meaning the syndrome can affect many different parts of the body too. Symptoms may vary between sufferers of the syndrome but involve mainly three systems: skeletal, ocular, and cardiovascular. The syndrome is […]
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. 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, […]
Marshall-Smith syndrome is a rare disease that affects multiple parts of the body. The main symptoms of the syndrome are advanced bone age, a failure to thrive (difficulty in gaining weight), characteristic facial features, and intellectual disability. Gene changes in the NFIX gene are responsible for the syndrome. For now, most cases of the syndrome […]
Megalencephaly-Capillary Malformation syndrome is a multiple malformation disorder. Its severity varies between individuals. First identified in 1997 as a distinct disorder, there are just 140 reported cases since then, but there may be an underdiagnosis contributing to this figure. This rare developmental condition mainly involves tissue overgrowth in different parts of the body. A large […]