Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.[2]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| 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 | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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What percentage of patients with Alström syndrome become deaf? What is the average age of deafness? See answer
