2 members
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...
1 members
Bangstad syndrome is an inherited congenital disorder associated with abnormalities of the cell membrane.
3 members
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
members
Banti's Syndrome is a chronic congestive enlargement of the spleen.
7 members
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, ...
members
Bare Lymphocyte Syndrome is a form of severe combined immunodeficiency caused by deficiencies in major histocompatibility.
3 members
Baroreflex Failure is a disorder characterized by change of blood pressure with episodes of severe hypertension.
2 members
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.
3 members
Barrett's Esophagus is an abnormal change in the cells of the esophagus caused by stomach acid.
2 members
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...
4 members
Bartter Syndrome is a rare genetic disordercharacterized by low potassium levels and decreased acidity of blood.
Expanded Description:
Bartter syndrome is a gene...
2 members
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...
1 members
Bazex–Dupré–Christol Syndrome is a disease of the hair follicle, exhibiting milia, and basal cell cancer during the second decade.
8 members
Beals-Hecht Syndrome is a genetic disorder similar to Marfan's Syndrome that affects connective tissue.
8 members
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...
18 members
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...
2 members
Behr's Syndrome is a rare genetic disorder characterized by partial and increasing loss of vision.
3 members
Osteopetrosis is a rare inherited disorder in which the bones harden.
1 members
Bent Spine Syndrome is the abnormal bending of the back.
5 members
Best Disease is a rare genetic eye disease affecting the retina, causing progressive vision loss.
1 members
Bilateral Choroid Plexus Cysts are cysts that occur on both sides of the choroid plexus within the brain.
7 members
Bilateral Diaphragmatic Paralysis is a rare condition characterized by profound abnormalities of pulmonary and respiratory muscle function.
2 members
Bilateral Renal Agenesis is a rare genetic disorder characterized by the absence of both kidneys at birth.
1 members
Bilateral Vestibular Paresis results from a loss of the connection of the semicircular canals to the brain resulting in a loss of balance.
2 members
Biotinidase deficiency is a genetic disorder in which the body is not able to process biotin properly.
138 members
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. ...
11 members
Birt-Hogg-Dube syndrome (BHD) is a rare inherited disorder that affects the skin and increases the risk of pneumothorax and kidney tumors.
10 members
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.
61 members
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...
8 members
Blau Syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.
11 members
Blepharophimosis Syndrome is a rare disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
5 members
Blepharospasm is an uncontrolled tic or twitch of the eyelid.
1 members
Bloom's Syndrome is a rare disorder characterized by rearrangements in an affected person's chromosomes.
9 members
Blount's Disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward.
2 members
Blue Rubber Bleb Nevus Syndrome is a rare disorder characterized by abnormal blood vessels affecting the gastrointestinal tract.
1 members
Botulism is a rare illness caused by the bacterium Clostridium botulinum.
1 members
Haploinsufficiency of the Chromatin Remodeler BPTF
Causes Syndromic Developmental and Speech Delay,
Postnatal Microcephaly, and Dysmorphic Features
5 members
Brachydactylia describes the abnromal shortness of fingers and toes.
4 members
Branchio-Oto-Renal Syndrome is a rare genetic disorder involving the kidneys, ears, and neck.
5 members
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.
1 members
Brown-Vialetto-Van Laere Syndrome is a rare neurological disorder characterized by deafness and paralysis of the muscles of the face, neck, shoulders and limbs.
1 members
Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death.
7 members
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...
6 members
Buerger's Disease is a rare disorder characterized by acute inflammation and thrombosis of arteries and veins of the hands and feet.
2 members
Bullous Pemphigoid is a rare skin disorder characterized by the formation of blisters between the skin layers epidermis and dermis.
1 members
Burkitt Lymphoma is a rare cancer of the lymphatic system.
14 members
Burning Mouth Syndrome is a rare disorder characterized by a burning or tingling sensation on the lips, tongue or mouth.
6 members
Buschke Ollendorf Syndrome is a rare hereditary disorder of connective tissue.