In-depth insights into various childhood syndromes and disorders.
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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; […]
Myhre syndrome is a rare disease and is incredibly rare, with fewer than 100 recorded cases worldwide to date. Although it is believed many cases go undiagnosed and that the number of recognized cases continues to increase due to improved awareness and testing. The main features of the syndrome include unique facial features and intellectual […]
Myopathy, Congenital Non-Progressive, with Moebius Sequence and Robin Sequence, is a rare syndrome, also known as Carey Fineman Ziter syndrome, this rare genetic syndrome presents with low muscle tone as well as the Moebius sequence of symptoms, Pierre-Robin sequence, distinct facial features, and growth delay. Mutations in the MYMK and MYMX genes are responsible for […]
It is a rare inherited disorder belonging to a group of disorders known as muscular dystrophies. Myoptic Dystrophy is the most common form of muscular dystrophy and it usually starts in adulthood. Features of the syndrome include muscle wasting and weakness as well as myotonia (prolonged muscle contractions) which makes it difficult for affected individuals […]
Nablus mask-like Facial Syndrome is a rare genetic syndrome, also known as a microdeletion syndrome. A mask-like facial appearance is a defining feature of the syndrome. The syndrome also presents with other unique facial features. This syndrome is also known as:Chromosome 8q22.1 Deletion Syndrome; NMLFS The syndrome is caused by a deletion on chromosome 8, […]