In-depth insights into various childhood syndromes and disorders.
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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 […]
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome is a rare congenital brain condition that presents with multiple birth defects (symptoms present at birth) and developmental delay. The syndrome is characterized by a very large head (megalocephaly) and brain. This growth is especially marked during the first two years of an affected individual’s life. Alternative syndrome names: Megalencephaly, polymicrogyria, mega corpus […]
Meier-Gorlin syndrome is a rare genetic disease. Affected individuals often have small ears, a short stature, and absent or very small kneecaps. Unique facial features are also present with the syndrome. Other syndrome names: Ear, Patella, Short Stature syndrome, EPS; Microtia, Absent Patellae, Micrognathia syndrome. Gene changes in the following genes are responsible for causing […]
Melnick-Needles syndrome is a rare genetic condition affecting mainly the bones. The main symptoms affect the skeletal and face. Due to how the syndrome is inherited (X-linked dominant) the syndrome mainly affects females with affected males rarely surviving birth or infancy, so severely are they affected by the condition. To date, there have been 70 […]
Menkes Disease is a genetic disorder that affects how well the body absorbs copper. It occurs in 1 in 100,000 live births, with the majority of individuals with the syndrome being born prematurely. Due to the way in which it is inherited, it occurs mainly in males. Syndrome Synonyms:Copper Transport Disease; Kinky Hair Disease; Kinky […]
Metaphyseal Chondrodysplasia, Jansen Type is a progressive and rare genetic syndrome that mainly affects the development of cartilage and bone in the body. As a progressive disorder symptoms worsen with age. There are just 20 cases of the syndrome reported worldwide to date. This syndrome is also known as:Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen disease […]