In-depth insights into various childhood syndromes and disorders.
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Mucopolysaccharidosis, Type IVA; MPS4A is a rare genetic metabolic disorder. It is often also referred to as Morquio syndrome. The disease may present at birth or later age. The syndrome is progressive but may develop at either a slow or fast rate depending on the type the individual develops. This syndrome is also known as:Galactosamine-6-sulfatase […]
Mucopolysaccharidosis Type VI; MPS6 is a rare genetic disorder and lysosomal storage disease. It is often also referred to as Maroteaux-Lamy Syndrome. The disease may present at birth or later age. The syndrome is progressive but may progress at either a slow or fast rate depending on the type the individual develops. This syndrome is […]
It is a subtype of Mucopolysaccharidosis, Type III. There are four subtypes of this form of the syndrome. Known as a form of childhood dementia the syndrome causes brain damage that is eventually fatal. Type B is the second most common subtype, after Type A. Except in some Southern European countries where it is the […]
It is a subtype of Mucopolysaccharidosis, Type III. There are four subtypes of this form of the syndrome. Known as a form of childhood dementia the syndrome causes brain damage that is eventually fatal. Type C is the mildest subtype of the syndrome. It’s symptoms are less severe than the other three types, and affected […]
Mucopolysaccharidosis Type IX; MPS9 is a rare genetic disorder and lysosomal storage disease. The disease may present at birth or later age. The syndrome is progressive but may progress at either a slow or fast rate depending on the type the individual develops. The syndrome is a lysosomal storage disease caused by deficiency of the […]
Muenke syndrome is a rare genetic syndrome that leads to the premature closing of bones in the skull as an infant develops (craniosynostosis). This in turn leads to unique facial features affecting the head and face. As a syndrome,it accounts for around 4% of all the recorded cases of craniosynostosis. This syndrome is also known […]
Mulibrey Nanism is a very rare genetic syndrome characterized by extreme and severe growth delays as well as abnormalities of the muscles, liver, brain, and eyes. There are 110 cases of the syndrome reported worldwide, with the majority of these cases occurring in Finland. This syndrome is also known as:Muscle-liver-brain-eye Nanism; Perheentupa Syndrome; Pericardial Constriction […]
Also known as Larsen syndrome autosomal recessive type, or JDSCD, this rare disease is a form of skeletal dysplasia that affects the joints of the body mainly. It is a multi-system condition that affects multiple parts of the body. Changes to the B3GAT3 gene are responsible for the syndrome. This syndrome is inherited in an […]
Multiple Synostoses syndrome is a rare genetic syndrome, also sometimes known as WL syndrome. The syndrome affects mainly the development of the bones. Symptoms usually become apparent during childhood. This syndrome is also known as:Deafness-symphalangism Syndrome of Herrmann; Facio-audio-symphalagism syndrome; Facio-audio-symphalangism syndrome; Facioaudiosymphalangism Syndrome; Herrmann symphalangism; Multiple synostosis syndrome; Symphalangism-brachydactyly Syndrome; Synostoses, Multiple, with Brachydactyly; […]