Bardet-Biedl Syndrome 7 (BBS7)
Bardet-Biedl syndrome 7 (BBS7) is a genetic condition that affects many organs. It belongs to a group of disorders called ciliopathies. In ciliopathies, tiny hair-like parts of cells called cilia do ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Bardet-Biedl Syndrome 6 (BBS6)
Bardet-Biedl syndrome 6 (BBS6) is a genetic type of Bardet-Biedl syndrome caused by harmful changes (variants) in a gene called MKKS (also known as BBS6). BBS is a disorder of tiny cell parts called ...
Bardet-Biedl Syndrome 5
Bardet-Biedl syndrome 5 is a genetic form of Bardet-Biedl syndrome (BBS) that happens when both copies of a person’s BBS5 gene carry harmful changes. BBS is a “ciliopathy,” which means tiny cell ...
Bardet–Biedl Syndrome (BBS)
Bardet–Biedl syndrome (BBS) is a rare, inherited condition that affects “primary cilia,” tiny antenna-like parts on many cells. Faulty cilia disturb signals that guide development and organ health. ...
Bardet-Biedl Syndrome Type 3 (BBS3)
Bardet-Biedl syndrome type 3 is a rare, inherited condition. It affects many body systems. The main problems are with the eyes, weight, hands and feet, kidneys, and hormones. Over time, the ...
Bardet–Biedl syndrome 3 (BBS3)
Bardet–Biedl syndrome 3 is a rare, inherited condition that affects many parts of the body. It happens when both copies of a gene called ARL6 (also known as BBS3) do not work properly. ARL6 helps ...
BBS2-related Bardet-Biedl Syndrome
BBS2-related Bardet-Biedl syndrome is a rare, inherited condition that affects many parts of the body. It happens when there are harmful changes (mutations) in the BBS2 gene. The BBS2 gene helps ...
Bardet–Biedl Syndrome (BBS) Due to a BBS2 Gene Mutation
Bardet–Biedl Syndrome (BBS) Due to a BBS2 Gene Mutation is a rare, inherited condition that affects the body’s primary cilia, the tiny “antennae” on cells that help them sense signals. A pathogenic ...
Bardet–Biedl Syndrome 2 (BBS2)
Bardet–Biedl syndrome 2 is a genetic condition that affects many body systems. It happens when a person inherits harmful changes (variants) in a gene called BBS2 from both parents. The BBS2 gene ...
Bardet-Biedl Syndrome Caused by Mutation in BBS12
Bardet-Biedl syndrome caused by mutation in BBS12 is a rare, inherited condition that affects many organs. It is a ciliopathy, which means tiny hair-like parts of cells called primary cilia do not ...
Bardet–Biedl Syndrome Caused by Mutation in TRIM32 (BBS11)
Bardet–Biedl syndrome caused by mutation in TRIM32 (BBS11) is a rare genetic condition that affects many body systems. It mainly harms the light-sensing cells in the retina of the eye, causes weight ...
Bardet-Biedl Syndrome 10 (BBS10)
Bardet-Biedl Syndrome 10 (BBS10) is a genetic condition that belongs to the Bardet-Biedl syndrome (BBS) family. BBS10 happens when both copies of a person’s BBS10 gene do not work as they should. The ...
Bardet-Biedl Syndrome 1 (BBS 1)
Bardet-Biedl syndrome 1 (BBS) is a rare, inherited condition that affects many parts of the body. It happens because of changes in genes that guide tiny “antenna” on cells called cilia. When cilia do ...
LMBB (Laurence-Moon–Bardet–Biedl) Syndrome
LMBB (Laurence-Moon–Bardet–Biedl) syndrome is a rare, inherited condition that affects many body systems. It happens because tiny hair-like cell parts called cilia do not work properly. Cilia are ...
Bardet-Biedl Syndrome (BBS)
Bardet-Biedl syndrome (BBS) is a rare, inherited condition that affects many body systems because tiny cell parts called cilia do not work properly. Cilia act like small antennas on cells. When cilia ...
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (usually called Barber–Say syndrome) is a very rare genetic condition that affects the outer body tissues that come from the ectoderm ...
Fryns-Aftimos Syndrome
Fryns-Aftimos syndrome is a very rare, genetic condition that affects how the face, brain, eyes, and other body systems develop. Many children have a recognisable facial appearance (for example, ...
Baraitser-Winter Syndrome
Baraitser-Winter syndrome is a rare genetic condition that mainly affects the brain and the face. Babies and children with BWS often have a recognizable facial appearance (for example, wide-set eyes ...
BAP1- Related Tumor Predisposition Syndrome (BAP1-TPDS)
BAP1-related tumor predisposition syndrome is an inherited condition that makes a person more likely to develop certain tumors during life. It happens when a harmful change (called a “pathogenic ...
Ruvalcaba-Myhre-Smith Syndrome
Ruvalcaba-Myhre-Smith syndrome is an older name for what doctors today call Bannayan–Riley–Ruvalcaba syndrome (BRRS). BRRS belongs to a family of conditions called PTEN hamartoma tumor syndrome ...
