Bardet–Biedl syndrome

Synonyms: BBS

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Bardet-Biedl syndrome (BBS) is an inherited multisystem ciliopathy characterised by retinal dystrophy, early-onset obesity, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism, and renal anomalies.

Bardet–Biedl syndrome

26 Gene(s)*

ALMS1

ARL6

BBIP1

BBS1

BBS10

BBS12

BBS2

BBS4

BBS5

BBS7

BBS9

C8orf37

CCDC28B

CEP290

IFT172

IFT27

IFT74

LZTFL1

MKKS

MKS1

NPHP1

SDCCAG8

TMEM67

TRIM32

TTC8

WDPCP

Clinical description

Frequency

Causes

Inheritance

Diagnosis

Differential diagnosis

Role of genetic testing

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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