Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrom...

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features....

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...

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...

Bocavirus is a virus that causes the common cold and other respiratory infections. Cold, fever, runny nose, and cough are the most common symptoms. It can also cause gastroenteritis, or stomach flu, which can cause severe stomach and intestine irr...

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal ...

Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. In some cases, ACC may arise in other primary sites, such as the skin; the breast; the nec...

Croup is a common childhood illness that causes swelling of the upper respiratory tract. This can be recognised by a change in tone of voice and a distinctive "croupy" cough that sounds like a seal or barking. Croup is caused by a variety of virus...

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...

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides o...

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disab...

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disab...

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by a deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor X...

Influenza, a viral infection, causes an illness that can range from mild to life-threatening. Influenza, more commonly known as the flu, is a viral infection of the respiratory tract that affects the nose, throat, and sometimes lungs. ...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irri...

Formaldehyde is a transitional molecule that participates in a wide range of biological activities. It can be found in a variety of everyday items, including meals. It's also used in medicine to treat a variety of ailments. Formalin is a 40 percen...

Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The ex...

A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present....

Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin inf...

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...

Idiopathic thrombocytopenic purpura (ITP) facts Treatment for idiopathic thrombocytopenic purpura (ITP) is based on how much and how often you're bleeding and your platelet count. In some cases, treatment may not be needed. ...

Impetigo facts Impetigo is a bacterial infection of the surface of the skin. Impetigo is more common in children than in adults. The two types of impetigo are non-bullous and bullous impetigo. Impetigo ...

Influenza, commonly known as the flu, is a contagious respiratory illness caused by influenza viruses. It can cause mild to severe illness and can sometimes lead to hospitalization or even death. Symptoms of the flu include fever, cough, sore thro...

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 ...

Latex allergy facts Latex allergy is dramatically on the rise throughout the world. Latex allergy rises with exposure and is suspected to continue to rise until a latex substitute is found. Latex allergy can be s...

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called acute lymphocytic leukemia or A...

Measles is a highly contagious viral infection that primarily affects children. It is characterized by a red, blotchy rash that typically starts on the face and spreads to the rest of the body. Other symptoms of measles include fever, cough, runny...

Melasma facts Melasma is most common in women 20-50 years of age. Melasma looks like brown, tan, or blue-gray spots on the face (hyperpigmentation). Melasma is characterized by three location patterns (central fa...

Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of addi...

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech ...

Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and ...

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), c...

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...

Necrotizing Sarcoid Granulomatosis (NSG) is a rare granulomatous illness that primarily affects the lungs and manifests as nodular masses of confluent sarcoid-like granulomas with severe necrosis and vasculitis. It was first described in 1973, as ...

Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thou...

Pertussis, also known as whooping cough, is a highly contagious respiratory infection caused by the bacterium Bordetella pertussis. It is characterized by severe coughing fits that can be followed by a "whooping" sound when the person tries to tak...

Respiratory Syncytial Virus (RSV) is a common respiratory virus that can cause mild, cold-like symptoms in adults and older children, but can be more serious in infants and young children. RSV is highly contagious and spreads through respiratory d...

Respiratory syncytial virus (RSV) infection is a common respiratory virus that causes cold-like symptoms. It commonly affects infants by the time they reach the age of two.  Respiratory syncytial virus (RSV) infection symptoms ...

Rosacea (roe-ZAY-she-uh) is a common skin condition that causes redness and visible blood vessels in your face. It may also produce small, red, pus-filled bumps. These signs and symptoms may flare up for a period of weeks to months and then dimini...

Rosai-Dorfman disease is a rare disorder characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical ...

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...

Trigeminal neuralgia, also known as tic douloureux, is a disorder of the fifth cranial nerve (trigeminal nerve) characterized by attacks of intense, stabbing pain affecting the mouth, cheek, nose, and/or other areas on one side of the face. The ex...

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resultin...

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the finger...

The respiratory system consists of a network of organs like the nose, mouth, voice box, windpipe, airways, lungs, blood vessels, and specific muscles. All work together in a coordinated manner and help in respiration. Upper Respirat...

Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune diso...

Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage...

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The W...

Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness. The eye (ocular) abnormalities can ...