In-depth insights into various childhood syndromes and disorders.
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Aspartylglucosaminuria is a progressive genetic disorder. Children born with the syndrome are healthy at birth, and symptoms usually develop from the age of 2 years or older. Symptoms tend to worsen with the onset of puberty. This syndrome is also known as:AGA Deficiency; AGU Aspartylglucosaminidase Deficiency; Aspartylglycosaminuria Glycoasparaginase; Glycosylasparaginase Deficiency This rare disease is the […]
Auriculocondylar syndrome is an extremely rare genetic condition that has, to date, been diagnosed in just 6 multigenerational families worldwide. The main features and symptoms of the syndrome affect the ears and jaw. It is an inherited condition. This syndrome is also known as:Constricted ears – malformed condyle of mandible Cosman ear; Question Mark Ears […]
Ayme-Gripp syndrome is a rare genetic condition that presents with very specific symptoms. It main features also include what are often referred to as Down syndrome-like facial features. The syndrome also presents with symptoms that affect multiple parts of the body including the eyes, ears, and skull. This syndrome is also known as:Cataracts, Congenital, With […]
Bainbridge-Ropers syndrome is a rare genetic developmental disorder first identified in 2013. It is a rare condition and in 2018 there were just 200 diagnosed cases worldwide. The syndrome presents with intellectual disability and developmental delay, affecting almost all areas of development in an affected individual. Mutations to the ASXL3 gene are responsible for causing […]
Baraitser-Winter is a genetic condition characterized by a number of unique facial features and other heart conditions. It was first identified in 1988. It is a multiple congenital anomaly syndrome, meaning it is present at birth and affects multiple parts of the body. The syndrome affects the development of the grey matter of the brain, […]
Barber-Say syndrome is a rare congenital condition with fewer than 20 patients diagnosed worldwide, to date. It’s most common feature is excessive hair growth, especially on the back of affected individuals. The syndrome also presents with unique facial features, thin skin, and deafness. This syndrome is also known as:Barber-Say syndrome Hypertrichosis, Atrophic Skin, Ectropion, And […]
Bardet-Biedl syndrome is a rare genetic disorder that occurs in approximately 1 in every 250,000 live births. Symptoms may vary considerably between individuals and affect multiple parts of the body. Characteristic features of this rare disease include obesity, intellectual disability, and issues concerning the eyes, kidneys and genitalia. While rare, the disorder has a higher […]
Barth syndrome is a rare genetic syndrome, a metabolic condition. There are 150 cases currently diagnosed worldwide, to date. It affects mainly males, and most affected individuals have a reduced life expectancy as a result of the condition. One of the main and most severe symptoms of this rare disease is an enlarged and weakened […]
Sometimes referred to as Gorlin syndrome, Basal Cell Nevus is a genetic condition that puts affected individuals at a possible greater risk of cancer. Affected individuals are at higher risk of being diagnosed with basal cell carcinoma (the most common form of skin cancer) during puberty. Defining features of the syndrome include issues with the […]