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ORPHA:64Disease
What it is
A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
12Common30–79%
32- Abnormal liver physiology
- Acanthosis nigricans
- Cataract
- Chronic bronchitis
- Chronic kidney disease
- Dilated cardiomyopathy
- Dorsocervical fat pad
- Elevated circulating hepatic transaminase concentration
- Elevated gamma-glutamyltransferase level
- Functional abnormality of the bladder
- Hypergonadotropic hypogonadism
- Hyperinsulinemia
- Hyperostosis frontalis interna
- Hypertension
- Kyphosis
- Lumbar scoliosis
- Optic disc pallor
- Pes planus
- Photophobia
- Polyphagia
- Puberty and gonadal disorders
- Receptive language delay
- Recurrent pneumonia
- Recurrent sinusitis
- Recurrent upper respiratory tract infections
- Restrictive ventilatory defect
- Retinal pigment epithelial atrophy
- Somatic sensory dysfunction
- Specific learning disability
- Thoracic scoliosis
- Truncal obesity
- Type II diabetes mellitus
Sometimes5–29%
64- Abnormal coronary artery physiology
- Abnormality of dental color
- Abnormal vestibular function
- Accelerated skeletal maturation
- Autistic behavior
- Chronic pulmonary obstruction
- Cirrhosis
- Congestive heart failure
and 56 more in this range
Rare1–4%
9- Ataxia
- Cognitive impairment
- Delayed menarche
- Hepatic encephalopathy
- Myalgia
- Pancreatitis
- Precocious puberty in females
- Sleep abnormality
and 1 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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