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What is Mucopolysaccharidosis Type IX (MPS9)? 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. What gene change causes Mucopolysaccharidosis Type […]
It is a rare genetic syndrome which 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 as: FGFR3 craniosynostosis Muenke craniosynostosis Muenke Nonsyndromic Coronal Craniosynostosis Severe achondroplasia – developmental delay-acanthosis nigricans
It is a very rare genetic syndrome characterized by extreme and severe growth delays as well as abnormalities of the muscles, liver, brain and the 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 And Growth Failure
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. This syndrome is also known as: GLCATI glcUAT-I Glucuronosyltransferase I; Glcati JDSCD
It 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 Syns1 Syns2 Syns3 Wl Syndrome
This rare disease is incredibly rare, with less than 100 recorded cases worldwide to dare. Although it is believed many cases go undiagnosed and that the number of recognised cases continues to increase due to improved awareness and testing. The main features of the syndrome include unique facial features, and intellectual disability. Syndrome Synonyms: Growth-mental Deficiency Syndrome Of Myhre Laryngotracheal Stenosis, Arthropathy, Prognathism, And Short Stature; Laps Syndrome Myhre 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.
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 to release their muscles after using them. There are two main types of the disorder. It affects 1 in every 8,000 people worldwide.
It 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