Jeune syndrome situs inversus
A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities
Diseases
Jimmy
That's a nicely made answer to a challenging quieston
Johanson Blizzard syndrome
A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
Johnson Hall Krous syndrome
A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.
Johnson Munson syndrome
A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
Johnson neuroectodermal syndrome
Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
Johnston Aarons Schelley syndrome
A very rare lethal syndrome characterized mainly by contractures and thickened skin
Joint laxity- familial
A very rare syndrome characterized mainly by loose joints. Joint dislocations tend to occur mainly in the shoulders, hips and kneecap.
Jones Hersh Yusk syndrome
A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
Jones syndrome
A very rare syndrome characterized mainly by progressive hearing loss and gum tumors.
Jorgenson Lenz syndrome
a rare familial syndrome with autosomic dominant type inherited and variable expressivity in four generations.
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
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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
Jung Wolff Back Stahl syndrome
A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies.
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 macular degeneration and hypotrichosis
A very rare syndrome characterized mainly by hair loss and eye degeneration.
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.