Diseases
Blepharophimosis with ptosis- syndactyly- and short stature
A rare disorder characterized by eye anomalies, webbed fingers and short stature
Blepharoptosis aortic anomaly
A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
Blepharoptosis cleft palate ectrodactyly dental anomalies
A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
Blepharoptosis myopia ectopia lentis
A rare genetic condition characterized by dislocation of eye lens, nearsightedness and drooping upper eyelid.
Blepharospasm
Blepharospasm is a focal disorder, which causes uncontrolled and abnormal blinking. Although people suffering from this disorder have a normal vision, they may experience some visual disturbances due to excessive blinking. The term Blepharospasm means uncontrolled muscle contraction of the eyelids. Most often this condition is confused with other eye problems like Ptosis and Blepharitis.
Blethen Wenick Hawkins syndrome
A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
Blood coagulation disorders- inherited
Inherited blood disorders where the ability to form clots is dysfunctional. The blood needs to be able to clot to prevent excessive bleeding in situations such as when the body suffers some sort of injury . With blood coagulation disorders, the blood's ability to clot may be impaired, resulting in excessive bleeding, or the blood may form clots too readily and result in thrombosis.
Bloom syndrome
Bloom syndrome: A rare inherited condition characterized by photosensitivity, raised, red skin blotches, growth deficiency and increased susceptibility to infectious diseases and tumors. Bloom syndrome: Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells.
Blount disease
Blount's disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward, resembling a bowleg.
Blue cone monochromatism
Blue cone monochromatism (BCM) is a recessive X-linked disease due to dysfunction of the red (L) and green (M) cone photoreceptors,characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia. BCM is as an incomplete form of achromatopsia.
Blue diaper syndrome
A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
Blue rubber bleb nevus
Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract.
Bobble-head doll syndrome
A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
BOD syndrome
A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies
Body Integrity Identity Disorder
Body integrity identity disorder (BIID), previously called apotemnophilia, is an extremelyrare condition where sufferers desire the amputationof a healthy limb because of distress associated withits presence.
Boerhaave syndrome
A rare spontaneous rupture of the esophagus which can occur during violent vomiting or retching.
Bone cancer
Bone cancer is an uncommon cancer that begins in a bone. Bone cancer can begin in any bone in the body, but it most commonly affects the long bones that make up the arms and legs.
Several types of bone cancer exist. Some types of bone cancer occur primarily in children, while others affect mostly adults.
The term "bone cancer" doesn't include cancers that begin elsewhere in the body and spread (metastasize) to the bone. Instead, those cancers are named for where they began, such as breast cancer that has metastasized to the bone.
Bone dysplasia Azouz type
A rare disorder involving abnormal bone development characterized by a flattened spine and abnormal benign cartilage growths whitin bones which affects it's growth and strength.
Bone dysplasia corpus callosum agenesis
A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
Bone dysplasia lethal Holmgren type
A rare lethal bone malformation syndrome.
Bone dysplasia Moore type
Bone fragility craniosynostosis proptosis hydrocephalus
A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
Bone marrow failure neurologic abnormalities
A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities.
Bone Marrow failure syndromes
A disorder where the bone marrow fails to produce enough new blood cells.
Bone neoplasms
new abnormal bone tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; includes tumors or cancer located in bone tissue or specific bones.
Bonneau-Beaumont syndrome
A rare disorder characterized by high levels of ferritin in the blood and cataracts that usually occur during infancy.
Bonneman Meinecke Reich syndrome
A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
Bonnemann Meinecke syndrome
A very rare syndrome characterized mainly by abnormal brain development and internal malformations.
Book syndrome
A rare condition observed in a number of generations within one family. It was characterized by excessive sweating.