GTR Home > Conditions/Phenotypes > Alstrom syndrome

Disease characteristics

Excerpted from the GeneReview: Alström Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens.

Associated genes

Clinical features

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