What is the life expectancy of Alstrom Syndrome?
Symptoms first appear in infancy with great variability in age of onset and severity of clinical symptoms, even within families bearing identical mutations [4]. The severity of the disease, often leading to organ failure, results in a reduced life expectancy, rarely exceeding 50 years.
What are the common features of Alstrom Syndrome?
Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy ), obesity, type 2 diabetes (the most common form of diabetes), and short stature.
What causes Alstrom Syndrome?
Alström syndrome is caused by disruptions or defects (mutations) in the ALMS1 gene. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. Alström syndrome is inherited as an autosomal recessive trait.
Is there a cure for Alstrom Syndrome?
There is no cure for Alstrom syndrome, but careful monitoring of vision, hearing, liver, heart, thyroid, and kidney function is important for detecting and treating symptoms early. Young children benefit from red-tinted prescription glasses, development of non-visual language skills, and hearing aids.
What is Frohlich syndrome?
Froehlich syndrome is characterized by increased or excessive eating that leads to obesity, small testes, and a delay in the onset of puberty. It is also common for children with Froehlich syndrome to experience the delay in physical growth and the development of secondary sexual characteristics.
What is Saethre Chotzen syndrome?
Saethre-Chotzen syndrome is a rare type of craniosynostosis — early closing of one or more of the soft, fibrous seams (sutures) between the skull bones. Saethre-Chotzen is pronounced SAYTH-ree CHOTE-zen. When a suture closes too early, a baby’s skull cannot grow correctly.
What are the 4 most common features of Wolfram syndrome?
Wolfram Syndrome is a rare genetic disorder which is also known as DIDMOAD syndrome after its four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness).
Can females have Noonan syndrome?
Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome.
When do the symptoms of Alstrom syndrome start?
Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.
Why was Alstrom syndrome named after Carl-Henry Alstrom?
Alström syndrome is inherited as an autosomal recessive trait. The disorder is named after Carl-Henry Alström, a Swedish psychiatrist who, in 1959, first described the condition in the medical literature. Alström syndrome may potentially affect several different organ systems of the body.
What kind of ciliopathy is Alstrom syndrome?
Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Meckel–Gruber syndrome and some forms of retinal degeneration. Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.
Where is the ALMS1 gene located in Alstrom syndrome?
Alström syndrome is inherited in an autosomal recessive manner. Alström syndrome is caused by a mutation in the ALMS1 gene, located on the short arm of chromosome 2 (2p13.2). The gene mutation is inherited as an autosomal recessive trait.