Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Branchio-oto-renal (BOR) syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by pits or ear tags in front of the outer ear, abnormal passages from the throat to the outside surface of the ne...

Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major symptoms may include bone pain, particularly in the legs; skeletal abnormali...

CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (u...

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...

Determining hearing loss in children facts Children can be tested for hearing loss at any age. There are several risk factors associated with hearing loss, including ear infections, prematurity, diseases, and syndromes....

Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major symptoms may include bone pain, particularly in the legs; skeletal abnormali...

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...

MERRF (Myoclonus Epilepsy with Ragged-Red Fibers) syndrome is an extremely rare disorder that begins in childhood and affects the nervous system and skeletal muscle as well as other body systems. The distinguishing feature in MERRF is myoclonus, c...

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of...

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...

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare inherited disorder that belongs to a group of disorders known as the ectodermal dysplasias. Major characteristics of Hay-Wells syndrome inclu...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The...

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 ...

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressi...

Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressi...

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-gal...

Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that s...

Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx. The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that s...

Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematu...

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 ...

Norrie disease is a rare X-linked disorder that occurs due to errors or disruption (mutations) of the NDP gene. All males are affected by loss of vision present at birth or shortly thereafter. Additional symptoms may occur in some case...

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from ...

Paget's disease facts Paget's disease is a chronic bone disorder. Paget's disease frequently causes no symptoms. Paget's disease can cause pain in the bones or joints, headaches and hearing loss, pressure on nerv...

Hydrocele facts While hydroceles may occur in either gender, they are much more common in males. A hydrocele is a collection of clear fluid in a thin walled sack present in the scrotum. Hydroceles may be either o...

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth...

Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the centra...

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between c...

Spinal headaches are a fairly common complication in those who undergo a spinal tap (lumbar puncture) or spinal anesthesia. Both procedures require a puncture of the membrane that surrounds the spinal cord and, in the lower spine, the lumbar and s...

Susac's syndrome is a rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the arteries that supply blood to the retina (branch retinal artery occlusion, or BRAO)...

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...

General DiscussionTownes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalit...

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...

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...

General DiscussionChromosome 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) an...

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign gro...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from ...