Diseases

FOXG1 syndrome

FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.

FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.

Fragile X syndrome

Fragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation. Fragile X syndrome (also called FXS) is the most common cause of inherited mental retardation. It is also the most common known cause of autism.  It affects about 1 in 4000 males and 1 in 8000 females.

There are four generally accepted forms of Fragile X syndrome which relate to the length of the repeated CGG sequence:

Normal (29-31 CGG repeats), Premutation (55-200 CGG repeats), Full Mutation (more than 200 CGG repeats), and Intermediate or Gray Zone Alleles (40 - 60 repeats).

Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems with movement, memory, and the autonomic nervous system. Though it also involves the fragile X gene, fragile X syndrome is a much different clinical syndrome.

FXTAS can present with many of the same symptoms of multiple system atrophy, and often includes parkinsonism, dysautonomia, peripheral neuropathy, and dementia. It is caused by a trinucleotide repeat disorder in the fragile X mental retardation 1 gene, FMR1. It most often occurs in men, but can present in women. There is no cure for FXTAS, but several of the symptoms can be made better with medication.

Fragoso Cid Garcia Hernandez syndrome

Fragoso cid garcia hernandez syndrome (medical condition): A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities.

Franceschini Vardeu Guala syndrome

Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.

Francois dyscephalic syndrome

Hallermann-Streiff syndrome (also known as the François Dyscephalic Syndrome, Hallermann-Streiff-François syndrome, Oculomandibulodyscephaly with hypotrichosis and Oculomandibulofacial syndrome) is a congenital disorder that affects growth, cranial development, hair growth and dental development. There are fewer than 200 people with the syndrome worldwide.[citation needed] An organisation supporting people with the Hallermann Streiff Syndrome is the Germany based "Schattenkinder e.V.

Franek Bocker kahlen syndrome

Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level

Frank Ter Haar syndrome

Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities

Fraser Jequier Chen syndrome

Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).

Fraser like syndrome

Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.

Fraser syndrome

Fraser syndrome (FS) was recognised as a clinical entity and named after George Fraser, who described two sibships with physical findings of CO, syndactyly, genital anomalies, laryngeal stenosis, ear malformations, and renal abnormalities.

Fraser syndrome, also called cryptophthalmos with other malformations, is a rare non-sex linked (autosomal) recessive genetic disorder that primarily affects the eyes.

Frasier syndrome

Frasier syndrome: A rare syndrome involving kidney disease and male pseudohermaphrodism (genetic male with some female sex organs). Kidney failure can occur as early as adolescence

FRAXE syndrome

FRAXE syndrome (medical condition): A rare syndrome involving kidney disease and male pseudohermaphrodism (genetic male with some female sex organs)

Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS), also termed distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), or whistling-face syndrome, was originally described by Freeman and Sheldon in 1938. Freeman-Sheldon syndrome is a rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA)

Freiberg’s disease

Understanding Freiberg's disease requires knowledge of the ossification process in the metatarsal bones of the feet. Each of the metatarsals are ossified from two centers; metatarsals 2 through 5 have one center for the body of the metatarsal and another for the head; the first metatarsal has one center for the body and one for its base. Ossification begins in the center of the body during the ninth week of life. The center for the base of the first metatarsal appears in the third year of life; the centers for the other metatarsal heads appear between the fifth and eighth year of life. Throughout adolescence, the epiphysis and metaphysic are separated by a narrow epiphyseal plate. The epiphysis ossifies to the metaphysic between 18 and 20 years of age.

Frenkel Russe syndrome

Frenkel Russe syndrome (medical condition): A rare disorder characterized by the association of poor immunity with dilated retinal blood vessels.

Frey’s syndrome

Frey's syndrome (also known as Baillarger’s syndrome, Dupuy’s syndrome, Auriculotemporal syndrome or Frey-Baillarger syndrome) is a food related syndrome which can be congenital or not, and can persist for life

Frias syndrome

Frias syndrome: A syndrome characterised by multiple abnormalities

Fried Goldberg Mundel syndrome

Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.

Friedman Goodman syndrome

Friedman goodman syndrome (medical condition): A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.

Friedreich Ataxia

Friedreich's ataxia  is a common form of inherited ataxia. In most cases, symptoms appear before the age of 25. Signs and symptoms of FA include a variety of neurological problems, cardiomyopathy, diabetes and scoliosis. Treatment for people with FA is usually directed at managing symptoms, as there is no cure.

It is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).

Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder between ages 5 and 15. Poor coordination and balance are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.

About 25 percent of people with Friedreich ataxia have an atypical form in which signs and symptoms begin after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.

Froelich’s syndrome

Froelich syndrome (medical condition): A rare syndrome where damage to the hypothalamus impairs the activity of the pituitary gland resulting in obesity, sluggishness and delayed puberty .Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated. Froehlich syndrome appears to be acquired while certain other disorders that resemble it, such as Prader-Willi syndrome, are geneti