- Alstrom's syndrome
- Alstrom syndrome
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Signs and symptoms may include:
- Vision abnormalities, specifically cone-rod dystrophy and cataracts
- Progressive sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear
- Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
- Excessive eating (hyperphagia) and rapid weight gain leading to obesity
- Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
- Elevated levels of fats (lipids) in the blood (hyperlipidemia)
- Fatty liver that may progress to significant liver disease
- Short stature
- Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (acanthosis nigricans)
- Lower hormone levels produced by the male testes or the female ovaries (hypogonadism)
Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.
The Human Phenotype Ontology provides the following list of signs and symptoms for Alström syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
- Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
- J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64.