Diseases

Joubert Syndrome

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290

Juberg Hayward syndrome

A rare hereditary disorder characterized by a growth hormone deficiency as well as mouth and limb abnormalities.

Juberg Marsidi syndrome

A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.

Judge Misch Wright syndrome

A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth.

Jumping Frenchmen of Maine

A rare condition where the startle reflex is greatly exaggerated. The startle reflex in this order is characterized by jumping, raising the arms, yelling, hitting, obeying sudden commands and repeating sentences

Juvenile dermatomyositis

A very rare autoimmune disorder where the body's own immune system attacks blood vessels and causes them to become inflamed. The condition is characterized by progressive muscle weakness and a characteristic pinkish-purple rash.

Juvenile gout

Gout that occurs in children as a result of kidney disease caused by a genetic defect.

Juvenile hyaline fibromatosis

A rare inherited disease involving tumor-like deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. Hyalin is a collagen-like substance made by cells in the connective tissue

Juvenile myelomonocytic leukemia

A rare form of malignant bone marrow cancer that occurs in children and involves the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.

Juvenile myoclonic epilepsy

A form of epilepsy that occurs in teenagers and involves sudden muscle jerking and seizures which is especially common on awakening.

Juvenile nephronophthisis

A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.

Juvenile osteoporosis

Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).

Juvenile Paget disease

A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood.

Juvenile pilocytic astrocytoma

Astrocytomas are tumors that arise from a type of glial (supporting) cell in the nervous system. Pilocytic astrocytomas are the most common benign brain tumors found in children. In children, this group of tumors includes most astrocytomas in the cerebellum, a region in the lower back portion of the brain that controls movement and balance; optic nerve gliomas, tumors that arise from the supporting cells in the optic nerve; and several other types of benign tumors. These tumors usually are cystic, meaning they are composed of a closed fluid- or semi-solid-filled sac, and they can arise almost anywhere in the brain. Because most pilocytic astrocytomas are slow-growing tumors that are not likely to spread to other parts of the body, the prognosis for children diagnosed with this type of tumor is excellent.

Juvenile polyposis syndrome

Juvenile polyposis syndrome (JPS) is a hereditary condition that is characterized by the presence of hamartomatous polyps in the digestive tract. Hamartomas are noncancerous masses of normal tissue that build up in the intestines or other places. These masses are called polyps if they develop inside a body structure, such as the intestines. The term juvenile polyposis refers to the type of polyp (juvenile polyp) that is found after examination under a microscope, rather than the age at which people are diagnosed with JPS.

Juvenile primary lateral sclerosis

Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.

Juvenile Scleroderma

Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body.

Juvenile temporal arteritis

A rare form of localized blood vessel inflammation that affects older children and young adults. The condition is harmless and any nodules that develop can be removed and do not reappear. The nodules develop in blood vessels in the temples.

Juvenile-onset dystonia

A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.

Kabuki syndrome

Kabuki syndrome (Kabuki makeup syndrome, KMS or Niikawa–Kuroki syndrome), is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals to stage makeup used in Kabuki, a Japanese traditional theatrical form.