McCune-Albright syndrome: 性早熟、咖啡牛奶斑和骨頭病變(fibrous dysplasia)

Bardet–Biedl syndrome

Autosomal recessive

A rare multisystem disorder of underlying ciliary dysfunction and a key genetic cause of chronic renal failure in children.Features: Renal failure (dysfunction of renal tubule cilia), GU tract malformations, obesity, cognitive impairment, poor visual acuity, and limb deformities. 

Alstrom syndrome

Mechanism: Alstrom syndrome is a genetic disorder caused by mutations in the ALMS1 gene.

Features: Alstrom syndrome affects multiple organ systems and is characterized by early-onset obesity, vision and hearing problems, cardiomyopathy, insulin resistance, and kidney and liver dysfunction.

Treatment: supportive and aimed at managing the various symptoms and complications associated with the disorder.