What is angina? The heart is the pump responsible for circulating blood throughout the body. Myocardium (myo=muscle + cardium=muscle) is the heart muscle that contracts to pump that blood and like any other muscle, it requires oxygen rich ...

The heart is the pump responsible for circulating blood throughout the body. Myocardium (myo=muscle + cardium=muscle) is the heart muscle that contracts to pump that blood and like any other muscle, it requires oxygen rich blood for energy. Angina...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Bell's palsy (Bell palsy) is paralysis of the facial nerve of unknown cause. The diagnosis is made when no other cause can be identified. Although Bell's palsy is thought to be caused by a viral infection of the facial nerve, this hasn't been prov...

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune de...

Bruxism, also known as teeth grinding, is a condition characterized by the involuntary clenching, grinding, or gnashing of teeth. It can occur during the day or night, but is most commonly associated with nighttime grinding, known as sleep bruxism...

Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected indiv...

Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. The term "campomelic" comes from the Greek words for "bent limb." Affec...

Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of t...

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormali...

Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocul...

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly ...

Crossbite is a dental condition in which the upper teeth do not align properly with the lower teeth when the jaw is closed. This misalignment can occur on one side of the mouth (unilateral crossbite) or on both sides (bilateral crossbite). Crossbi...

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly ...

Crowded teeth, also known as dental crowding, is a common orthodontic issue where there is not enough space in the mouth for all of the teeth to align properly. This can result in teeth overlapping, twisting, or becoming crooked. Crowded teeth can...

Dental cavitation, also known as a cavitation lesion or a cavitation, is a hole or hollow space in the jawbone that is caused by a chronic infection or inflammation in the bone. These cavitations can occur after a tooth extraction, root canal trea...

Blackfan-Diamond anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) as well as slow...

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in th...

Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (con...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Hanhart syndrome is a rare birth defect in which the most obvious signs are a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extrem...

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximatel...

Impacted wisdom teeth are third molars at the back of the mouth that do not have enough room to emerge or develop normally. This can cause them to become trapped or impacted in the jawbone or gum tissue, leading to pain, swelling, infection, and o...

wJansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbo...

Jaw pain is discomfort or soreness in the jaw area, which can be caused by a variety of factors such as teeth grinding, temporomandibular joint (TMJ) disorder, dental issues, or muscle tension. It can range from mild to severe and may be accompani...

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of ...

Malocclusion is a dental condition in which the teeth are misaligned or do not fit together properly when the jaws are closed. This can result in problems with biting, chewing, and speaking, as well as issues with the appearance of the teeth and f...

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also ...

General DiscussionPseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately result...

Nager Syndrome is a rare disorder that may or may not be genetically derived. Major symptoms may include underdevelopment of the cheek and jaw area of the face. Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of...

Binder type maxillonasal dysplasia is a rare condition characterized by abnormal development (dysplasia) of the nasal and upper jaw (nasomaxillary) regions. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial h...

Open bite is a type of malocclusion (misalignment of the teeth) where the upper and lower front teeth do not touch when the mouth is closed. This can be caused by a variety of factors, including genetics, thumb sucking, tongue thrusting, or prolon...

Oral cancer is a type of cancer that develops in the tissues of the mouth or throat. It can occur in the lips, tongue, gums, floor of the mouth, roof of the mouth, or the inner lining of the cheeks and throat. Oral cancer is often linked to tobacc...

Oral fibrosis, also known as oral submucous fibrosis, is a chronic, progressive condition that affects the mucous membranes in the mouth. It is characterized by the formation of fibrous bands of tissue in the mouth, which can lead to restricted mo...

Osteonecrosis of the jaw (ONJ) is a rare condition in which the bone tissue in the jaw fails to heal after minor trauma, such as a tooth extraction or dental surgery, leading to the death of the bone tissue. This can result in pain, swelling, infe...

An overbite is a dental condition in which the upper front teeth overlap significantly with the lower front teeth when the mouth is closed. This can be caused by genetics, thumb sucking, or prolonged use of a pacifier. Overbites can lead to issues...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a se...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities. The facial features include a broad square-shaped face, an abnormally short, broad head (brac...

Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities. The facial features include a broad square-shaped face, an abnormally short, broad head (brac...

Temporomandibular Joint Disorder (TMJ) is a condition that affects the temporomandibular joint, which is the joint that connects the jaw to the skull. It can cause pain and discomfort in the jaw joint and the muscles that control jaw movement. Sym...

Vascular disease includes any condition that affects the circulatory system. As the heart beats, it pumps blood through a system of blood vessels called the circulatory system. The vessels are elastic tubes that carry blood to every part of the bo...

Vascular disease includes any condition that affects the circulatory system. As the heart beats, it pumps blood through a system of blood vessels called the circulatory system. The vessels are elastic tubes that carry blood to every part of the bo...

Torus mandibularis is a bony growth that develops on the inner surface of the lower jaw, near the premolar and molar teeth. It is a benign, non-cancerous growth that is usually painless and does not require treatment unless it causes discomfort or...

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby stru...

C syndrome, also known as Opitz trigonocephaly syndrome, is a rare disorder transmitted as a result of "gonadal mosaicism". Mosaicism refers to a condition in which a person has cells that differ from each other in genetic makeup. The difference i...

Trismus, also known as lockjaw, is a condition characterized by difficulty opening the mouth due to muscle spasms in the jaw. It can be caused by a variety of factors, including dental procedures, trauma to the jaw, infections, or neurological con...

An underbite is a dental condition in which the lower teeth protrude further out than the upper teeth when the jaw is closed. This misalignment of the teeth can cause issues with chewing, speaking, and overall oral health. Underbites can be caused...

Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) ...