Schwartz-Jampel syndrome —
A new TLC show, "Two in a Million," introduces pairs of people who share rare medical conditions. Giovanni, 7, left, and Owen, 9, have Schwartz-Jampel syndrome, a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness, abnormal bone development, permanent bending or extension of certain joints in a fixed position, and/or growth delays resulting in abnormally short stature (dwarfism), according to the National Organization for Rare Disorders. Affected individuals might also have small, fixed facial features and various abnormalities of the eyes, some of which can cause impaired vision.
Osteogenesis imperfecta —
Tiffany, 21, left, and Destiny, 21, have osteogenesis imperfecta, a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause, according to the National Organization for Rare Disorders. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of osteogenesis imperfecta also varies greatly, even among individuals of the same family. OI may be a mild disorder, or may result in severe complications.
Lamellar ichthyosis —
Kenny, 45, left, and Bobbi, 49, have lamellar ichthyosis, a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but do not separate normally at the surface of the outermost layer of skin and are not shed as quickly as they should be, the National Organization for Rare Disorders said. The result of this retention is the formation of scales.
Joshua, 11, top, met twins Brandon and Andrew, 7, on "Two in A Million." Hypohidrotic ectodermal dysplasias typically affect the hair, teeth, nails, sweat glands and/or skin, according to the National Organization for Rare Disorders. It is primarily characterized by partial or complete absence of certain sweat glands, causing lack of or diminished sweating, heat intolerance and fever, abnormally sparse hair, and absence and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge ("saddle nose"), unusually thick lips and/or a large chin. The skin on most of the body may be abnormally thin, dry and soft, with an abnormal lack of pigmentation. However, the skin around the eyes may be darkly pigmented and finely wrinkled, appearing prematurely aged.
Jarcho-Levin syndrome —
Yajaira, 27, left, and Tiffany, 30, have Jarcho-Levin syndrome, a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency and/or other abnormalities. Infants born with Jarcho-Levin syndrome have short necks, limited neck motion due to abnormalities of the cervical vertebrae and short stature, according to the National Organization for Rare Disorders. In most cases, infants with Jarcho-Levin syndrome experience respiratory insufficiency and are prone to repeated respiratory infections that result in life-threatening complications. The vertebrae are fused and the ribs fail to develop properly. Therefore, the chest cavity is too small to accommodate the growing lungs.
Goldenhar syndrome —
Austin, 15, and Elena, 12, met on TLC's "Two in A Million." Oculo-auriculo-vertebral spectrum refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder, according to the National Organization for Rare Disorders. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form.
