Table 4.
Differential diagnosis for Alstrom syndrome [41, 42]
Alstrom syndrome | Laurence- Moon syndrome | Bardet- Biedl syndrome | Refsum disease | |
Inheritance | AR | AR | AR | AR |
Childhood Obesity | + | + | + | - |
Visual Impairment | + | + | + | + |
Sensorineural Deafness | + | - | - | + |
Short Stature | + | - | -/+ | - |
Diabetes Mellitus | + | - | + | - |
Renal Disease | + | - | + | - |
Polydactyly/syndactyly | - | - | + | + |
Mental Delay | - | + | + | +/- |
Hypogonadism | + | + | + | - |
Dilated Cardiomyopathy | + | - | -/+ | -/+ |
Other | Hepatic Involvement | Spastic paraplegia | - | Anosmia Dysmorphic features Cerebellar ataxia Polyneuropathy |
Abbreviations: AR, autosomal recessive