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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alström syndrome


Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Alström syndrome?

The signs and symptoms of Alström syndrome vary among affected individuals. The age that symptoms begin also varies. Symptoms may first appear anywhere from infancy to early adulthood.[1]

Signs and symptoms may include:[2][3][1]
  • 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.[1]

Last updated: 6/22/2016

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.

Signs and Symptoms Approximate number of patients (when available)
Chorioretinal abnormality 90%
Sensorineural hearing impairment 90%
Short stature 90%
Truncal obesity 90%
Abnormality of lipid metabolism 50%
Acanthosis nigricans 50%
Asthma 50%
Cataract 50%
Hyperinsulinemia 50%
Hypertrophic cardiomyopathy 50%
Insulin resistance 50%
Nystagmus 50%
Otitis media 50%
Photophobia 50%
Pulmonary hypertension 50%
Recurrent respiratory infections 50%
Respiratory insufficiency 50%
Type II diabetes mellitus 50%
Visual impairment 50%
Abnormality of adipose tissue 7.5%
Abnormality of female external genitalia 7.5%
Abnormality of the renal tubule 7.5%
Abnormality of the testis 7.5%
Abnormality of the urethra 7.5%
Alopecia 7.5%
Aplasia/Hypoplasia of the cerebellum 7.5%
Autism 7.5%
Chronic hepatic failure 7.5%
Cirrhosis 7.5%
Cognitive impairment 7.5%
Congestive heart failure 7.5%
Decreased fertility 7.5%
Deeply set eye 7.5%
Glomerulopathy 7.5%
Hepatic steatosis 7.5%
Hepatomegaly 7.5%
Hypertrichosis 7.5%
Hypothyroidism 7.5%
Nephrocalcinosis 7.5%
Obsessive-compulsive behavior 7.5%
Polycystic ovaries 7.5%
Portal hypertension 7.5%
Precocious puberty 7.5%
Pulmonary fibrosis 7.5%
Renal insufficiency 7.5%
Renovascular hypertension 7.5%
Round face 7.5%
Seizures 7.5%
Splenomegaly 7.5%
Vesicoureteral reflux 7.5%
Abnormality of the hand -
Abnormality of the teeth -
Accelerated skeletal maturation -
Atherosclerosis -
Autosomal recessive inheritance -
Blindness -
Chronic active hepatitis -
Cone/cone-rod dystrophy -
Diabetes insipidus -
Dilated cardiomyopathy -
Elevated hepatic transaminases -
Gingivitis -
Growth hormone deficiency -
Gynecomastia -
Hypergonadotropic hypogonadism -
Hyperostosis frontalis interna -
Hypertension -
Hypertriglyceridemia -
Hyperuricemia -
Hypoalphalipoproteinemia -
Insulin-resistant diabetes mellitus -
Kyphosis -
Menstrual irregularities -
Multinodular goiter -
Nephritis -
Pes planus -
Pigmentary retinopathy -
Progressive sensorineural hearing impairment -
Recurrent pneumonia -
Scoliosis -
Subcapsular cataract -
Tubulointerstitial nephritis -

Last updated: 7/1/2016

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.


References
  1. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
  2. Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
  3. 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.


Other Names for this Disease
  • ALMS
  • ALSS
  • Alstrom's syndrome
  • Alstrom syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.