Baller-Gerold syndrome (BGS) is a rare genetic disorder that affects growth and development of the bones of the skull and limbs of newborn babies. A newborn baby’s head is compos...

Bangstad syndrome is an inherited congenital disorder associated with abnormalities of the cell membrane.Bangstad Syndrome is a very rare disorder that is characterized as a number of different ...

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (an abnormally large head), multiple benign growths known as hamartomas, and developmental delay...

Banti's Syndrome is a chronic congestive enlargement of the spleen.

Bardet-Biedl syndrome (BBS) is an inherited condition that impacts multiple parts of the body and is characterized by a wide-range of symptoms including progressive visual impairment, ...

Bare Lymphocyte Syndrome is a form of severe combined immunodeficiency caused by deficiencies in major histocompatibility.

Baroreflex Failure is a disorder characterized by change of blood pressure with episodes of severe hypertension.

Barre-Lieou Syndrome is a rare disorder characterized by trauma or arthritic changes involving the third and fourth cervical vertebrae or cervical disk lesions with provocation of the cranial nuclei.

Barrett's Esophagus is an abnormal change in the cells of the esophagus caused by stomach acid.

Barth syndrome is a rare, genetic, neuromuscular and metabolic disorder occurring primarily in males. The disorder affects multiple systems of the body including the immune system, heart, and sk...

Bartter Syndrome is a rare genetic disordercharacterized by low potassium levels and decreased acidity of blood.

Expanded Description: 

Bartter syndrome is a gene...

Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop prog...

Bazex–Dupré–Christol Syndrome is a disease of the hair follicle, exhibiting milia, and basal cell cancer during the second decade.

Beals-Hecht Syndrome, also known as Congenital Contractural Arachnodactyly (CCA), is a rare genetic disorder that primarily affects the connective tissue. It is characterized by long, ...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth and tumor predisposition syndrome that presents with a variety of clinical features including a large tongue, one-sided or general ov...

Behcet’s Disease (or Behcet’s Syndrome) is a chronic (long term) form of vasculitis, which is an inflammation of the blood vessels. Blood vessel inflamma...

Behr's Syndrome is a rare genetic disorder characterized by partial and increasing loss of vision.

T1F1 gene mutation 

brain- lung- thyroid 

Osteopetrosis is a rare inherited disorder in which the bones harden.

Bent Spine Syndrome is the abnormal bending of the back.

Best Disease (or Best Vitelliform Macular Dystrophy) is a rare genetic disorder occurring in children that leads to progressive loss of vision. Macular dystrophy refers to a group of i...

Bilateral Choroid Plexus Cysts are cysts that occur on both sides of the choroid plexus within the brain.

Bilateral Diaphragmatic Paralysis is a rare condition characterized by profound abnormalities of pulmonary and respiratory muscle function.

Bilateral Renal Agenesis is a rare genetic disorder characterized by the absence of both kidneys at birth.

Bilateral Vestibular Paresis results from a loss of the connection of the semicircular canals to the brain resulting in a loss of balance.

Biotinidase deficiency is a genetic disorder in which the body is not able to process biotin properly.

Birdshot Chorioretinopathy is a rare progressive condition characterized by vitritis (inflammation) and multiple ovoid spots, which are typically orange in colour and hypopigmented, in the eye. ...

Birt-Hogg-Dubé Syndrome (BHDS) is a rare genetic disorder that can cause abnormal skin growths or tumors. Some of the physical affects of BHDS can include skin lesions, lung cysts, and an...

Bladder Exstrophy is a rare congenital disorder characterized by a variety of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare cancer that affects certain cells of the immune system called dendritic cells. The immune system is the natural defense of the body...

Blau Syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.

Blepharophimosis Syndrome is a rare disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.

Blepharospasm is an uncontrolled tic or twitch of the eyelid.

Bloom's Syndrome is a rare disorder characterized by rearrangements in an affected person's chromosomes.

Blount’s disease is a growth disorder that affects the tibia (shinbone) and results in progressive bowing of the leg. It is caused by abnormal growth of the medial (inner) part o...

Blue Rubber Bleb Nevus Syndrome is a rare disorder characterized by abnormal blood vessels affecting the gastrointestinal tract.

Botulism is a rare illness caused by the bacterium Clostridium botulinum.

Haploinsufficiency of the Chromatin Remodeler BPTF
Causes Syndromic Developmental and Speech Delay,
Postnatal Microcephaly, and Dysmorphic Features

Brachydactylia describes the abnromal shortness of fingers and toes.

Branchio-Oto-Renal Syndrome is a rare genetic disorder involving the kidneys, ears, and neck.

Brown-Sequard Syndrome is a rare disorder characterized by a loss of motor function and sensation caused by the lateral hemisection of the spinal cord.

Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder caused by nerve loss. It is characterized by progressive sensorineural hearing loss and multiple cranial nerve...

Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death.

Budd-Chiari syndrome is a rare disorder characterized by the blockage of the veins that transport the blood out from the liver. As a consequence, the blood flow is blocked and the blood accumula...

Buerger's Disease is a rare disorder characterized by acute inflammation and thrombosis of arteries and veins of the hands and feet.

Bullous Pemphigoid is a rare skin disorder characterized by the formation of blisters between the skin layers epidermis and dermis.

Burkitt Lymphoma is a rare cancer of the lymphatic system.

Burning Mouth Syndrome is a rare disorder characterized by a burning or tingling sensation on the lips, tongue or mouth.

Buschke Ollendorf Syndrome is a rare hereditary disorder of connective tissue.