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 rare disorder in which the baroreceptors—sensors in the blood vessels that help regulate blood pressure—lose their ability to respond to changes in ...

Barre-Lieou syndrome is a rare and poorly understood condition associated with irritation or dysfunction of the cervical sympathetic nerves in the neck, often resulting in a range of n...

Barrett’s esophagus is a condition in which the normal squamous cells lining the esophagus are damaged by the stomach acid and replaced with specialized columnar cells, a process known as ...

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, inherited neurological disorder characterized by p...

T1F1 gene mutation 

brain- lung- thyroid 

Benign osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption. This condition occurs when osteoclasts, the cells responsible for breaki...

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 (BDP) is a rare condition in which both sides of the diaphragm, the primary muscle responsible for breathing, become weak or completely paralyzed. The diaphragm...

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 condition (present from birth) in which the bladder and parts of the urinary tract develop abnormally. In the developing fetus, the bladder may d...

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, inherited autoinflammatory disorder characterized by early-onset granulomatous arthritis, uveitis, and dermatitis. Granulomatous dermatitis is a type of skin rash or inf...

Blepharophimosis syndrome, short for blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), is a rare genetic disorder characterized by congenital abnormalities of the eyelids. The m...

Blepharospasm is a neurological movement disorder characterized by involuntary, repetitive contractions or spasms of the eyelid muscles. These eyelid spasms may occur infrequently at f...

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 (BRBNS) is a rare vascular disorder characterized by multiple malformed veins, or blebs, affecting the skin, gastrointestinal (GI) tract, and other orga...

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-Séquard Syndrome (BSS) is a rare neurological condition caused by damage to one side of the spinal cord, leading to a distinct pattern of motor and sensory impairments. It...

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 (BMS) is a chronic condition characterized by a burning sensation in the mouth without an apparent cause (medically known as glossodynia). The discomfort is usua...

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