A rare infectious condition caused by infection with a type of bacteria called Ehrlichia (Ehrlichia chaffeensis) which attack monocytes(a type of white blood cell). The infection is transmitted by the Lone Star and American dog tick
An infectious disease caused by parovirus B19 which causes fifth disease and erythema infectiosum
Human T-cell leukemia virus type 1 (HTLV-1) is an oncogenic retrovirus associated primarily with adult T-cell leukemia and neurological disease. HTLV-1 encodes the positive trans-regulatory proteins Tax and Rex, both of which are essential for viral replication
Human T-cell leukemia virus (HTLV) type 1 and type 2 are related but distinct pathogenic complex retroviruses. HTLV-1 is associated with adult T-cell leukemia and a variety of immune-mediated disorders including the chronic neurological disease termed HTLV-1-associated myelopathy/tropical spastic paraparesis. In contrast, HTLV-2 displays distinct biological differences and is much less pathogenic, with only a few reported cases of leukemia and neurological disease associated with infection. In addition to the structural and enzymatic proteins, HTLV encodes regulatory (Tax and Rex) and accessory proteins.
Human T-lymphotropic virus type 3: A former name used for HIV which is an infectious viral disease. The infection usually has an initial symptom-free period which is followed by various stages of increasing severity.
A rare genetic disorder characterized by fusion of the humerus (upper arm) and radial (lower arm) bones as well as other anomalies
A very rare syndrome characterized by arm abnormalities primarily involving the absence of a part of the upper arm called the trochlea. The trochlea is the end of the arm bone which allows arm movement through it's pulley-like structure.
A very rare syndrome characterized mainly by eye, kidney and brain abnormalities
A very rare syndrome characterized mainly by eye, kidney and brain abnormalities.
A very rare disorder characterized by the association of mental retardation and abnormal bone hardening
A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead
Hunter syndrome or Mucopolysaccharidosis II (MPS II) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. It is characterized by distinctive facial features, a large head, hydrocephalus, enlargement of the liver and spleen (hepatosplenomegaly), umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. MPS II is caused by mutations in the IDS gene and is inherited in an X-linked manner.
There is a wide range in severity of symptoms present in individuals with MPS II. Previously, MPS II was classified as severe and attenuated based on severity. More recently, the terms slowly progressive and early progressive have been suggested. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the less severe type typically live into adulthood and intelligence is not affected. Treatment is focused on managing the signs and symptoms present in each individual.
A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies
Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by mutations in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications.
There is also a less common, early-onset form of HD which begins in childhood or adolescence called juvenile Huntington disease.
Huntington's disease is a disorder passed down through families in which nerve cells in certain parts of the brain waste away, or degenerate.
Hurler syndrome (mucopolysaccharidosis type I, MPS I, Hurler's disease, gargoylism), is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme α-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.
Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome. Hunter syndrome is X-linked while Hurler syndrome is autosomal recessive.
It is named for Gertrud Hurler (1889–1965), a German pediatrician
A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities
Abnormally shaped permanent front teeth (incisors). The defect is usually associated with congenital syphilis
Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life.
Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear.
Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years.
A very rare disorder characterized by short stature and a severe degenerative brain disorder
A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies
Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Hyalinosis systemic short stature as a "rare disease".
A rare genetic eye disorder characterized by the early onset of cataracts, retinal degeneration and retinal detachment.
A parasitic infection caused by a tapeworm larva called echinococci. The type and severity of symptoms is determined by the location of the infestation - the most common site for the larval cysts is the liver. The most common symptoms are due to compression of nearby organs or blood vessels due to increasing size of the cyst. The larva may incubate for months or even years
Hyde Forster Mccarthy Berry syndrome (medical condition): A very rare syndrome characterized mainly by mental retardation and an abnormal skull shape
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. (
A rare skin disorder characterized the development of crusting skin eruptions following exposure to the sun