Conditions / Syndrome
Alstrom syndrome
info · Syndrome
A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the AL
A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
Signs and symptoms
- Short stature
- Hyperglycemia
- Nystagmus
- Elevated hemoglobin A1c
- Attenuation of retinal blood vessels
- Sensorineural hearing impairment
- Photophobia
- Visual impairment
- Obesity
- Constriction of peripheral visual field