Bardet-Biedl syndrome

MONDO:0015229

A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems

Also known as: BBS, Bardet-Biedl syndrome

7 clinical trials for this condition and its sub-types, 6 tagged with Bardet-Biedl syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7133) ↑ Autosomal recessive disease (994) ↑ Ciliopathy (49)

Sub-types of Bardet-Biedl syndrome

Including sub-types (7) Tagged with Bardet-Biedl syndrome (6)

Trials to join now! 4 Not yet finished but already full! 1 Completed 2

Genetic clues to childhood obesity: study seeks answers

Knowledge-focused Ongoing

This study looks at the genes of 1000 people with severe early-onset obesity to find rare genetic causes. It focuses on conditions like Bardet-Biedl syndrome. The goal is to better understand these conditions and improve how they are diagnosed. Participants provide a blood or sal…

Sponsor: Rolfs Consulting und Verwaltungs-GmbH (RCV) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC

Bardet-Biedl syndrome

Where it sits in the disease tree

Genetic clues to childhood obesity: study seeks answers