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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (usually called Barber–Say syndrome) is a very rare genetic condition that affects the outer body ...
Barber–Say syndrome is an extremely rare, present-at-birth (congenital) condition that mainly affects the skin, hair, eyelids, mouth, and facial shape. Babies ...
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 ...
COFS syndrome is a very rare, inherited, progressive disorder that starts before birth and affects the brain, eyes, face, and skeleton. Babies are usually born ...
Cerebro-oculo-facial-lymphatic syndrome (COFLS) is a very rare condition first described in medical journals in which the brain (cerebro-), eyes (oculo-), face ...
Baraitser–Winter cerebrofrontofacial syndrome is a rare genetic condition that affects how the face, eyes, brain, and other parts of the body develop before ...
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 ...
Tumor Susceptibility Linked to Germline BAP1 Mutations is an inherited condition. A person is born with a harmful change (mutation) in one copy of the BAP1 ...
Tumor Predisposition Syndrome 1” refers to a rare, inherited condition caused by harmful (pathogenic) changes in the BAP1 gene. The BAP1 gene normally helps ...
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 ...
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 ...
Myhre–Riley–Smith syndrome is a genetic condition that starts early in life and affects how body tissues grow and organize. Children are often large at birth ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition. It belongs to a family of disorders called PTEN hamartoma tumor syndrome (PHTS). The main ...
Banki syndrome is a very rare bone condition. It affects how the small bones of the wrist and the bones of the hand grow and join. The most important feature ...
Band heterotopia is a birth-time (congenital) problem in brain development. In early pregnancy, new brain cells (neurons) are supposed to travel outward to ...
Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is born with an under-active or missing thyroid gland (congenital ...
Athyroidal hypothyroidism with spiky hair and cleft palate syndrome is a very rare genetic disorder in which a baby is born without a thyroid gland ...
This condition is a genetic syndrome. Babies are born without a thyroid gland or with a very tiny thyroid (so they have congenital hypothyroidism). They also ...
Bamforth–Lazarus syndrome is a very rare genetic condition. Babies are born with congenital hypothyroidism (the thyroid gland does not work or is missing), and ...
