Xeroderma pigmentosum, type 6: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation.
Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.
Xeroderma pigmentosum, variant type (medical condition): A rare pigmentary disease that is caused by an enzyme deficiency.
Xeroderma talipes enamel defects: A condition characterised by ectodermal dysplasia .
XK aprosencephaly: An extremely rare condition where the forebrain is absent as well as other abnormalities.
XX male syndrome: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
XY female is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that XY female, or a subtype of XY female, affects less than 200,000 people in the US population.
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Yim Ebbin syndrome is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly.
Yolk sac tumor (medical condition): A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen , thorax, tailbone region (sacrococcygeal area), vagina, liver, retroperitoneum and pineal ventricle of the brain.
Yolk sac tumors are also known as germ cell tumors, teratomas, or embryonal carcinoma.
A condition that affects the olivopontocerebellum and the cerebellar cortex of the brain.
Young syndrome:: Symptoms in a fetus that occur when the mother is suffering from advanced diabetes mellitus during pregnancy.
Young Hughes syndrome: A sex linked condition that is characterised by mental retardation and hypogonadism.
Yunis Varon syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Yunis Varon syndrome, or a subtype of Yunis Varon syndrome, affects less than 200,000 people in the US population.
Yunis Varon Syndrome is an extremely rare autosomal recessive inherited multisystem disorder with defect affecting the skeletal, ectodermal and cardiorespiratory system.
Yusho disease: A condition that affects the menstrual cycle of female as well as having effects on the immune system
Zadik Barak Levin Syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development. There are certain facial features common to people with Zadik Barak Levin syndrome, including a flattened nose, large forehead, and fewer teeth than normal.
Zamzam Sheriff Phillips syndrome is a rare genetically congenital syndrome. It is associated with the symptoms of Aniridia, ectopia lentis, abnormal upper incisors and mental retardation. It is believed to be inherited in an autosomal recessive fashion. Not a lot of research has been undertaken of this particular disease so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though mental retardation is believed to be due to a different genetic cause. Consanguinuity has been attributed to affect the chances of inheriting this disease.
ZAP70-related severe combined immunodeficiency (ZAP70-related SCID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower respiratory infections and oral moniliasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT)
Zellweger syndrome (cerebrohepatorenal syndrome), is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies.
Zellweger syndrome is one of three peroxisome biogenesis disorders (PBD) which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD). The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
A condition that affects an individual resulting in several physical deformities and mental conditions
Zimmerman-Laband syndrome (ZLS), also known as Laband's Syndrome, is an extremely rare genetic disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Zollinger-Ellison syndrome is a rare condition in which one or more tumors form in your pancreas or the upper part of your small intestine (duodenum). These tumors, called gastrinomas, secrete large amounts of the hormone gastrin, which causes your stomach to produce too much acid. The excess acid then leads to peptic ulcers, as well as to diarrhea and other symptoms.
The primary tumor is usually located in the pancreas, duodenum or abdominal lymph nodes, but ectopic locations have also been described (e.g., heart, ovary, gallbladder, liver, kidney).
Cataracts that affect only certain layers of the lens.
A neonatal condition that is characterized by deformities of the head, chest and nails.
Zunich neuroectodermal syndrome: is a very rare ectodermal dysplasia syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, conductive hearing loss and epilepsy.
Zuska's disease is rare but painful breast disorder that is not related to cancer but it is still a serious condition. Also known as "lactiferous fistula", or Zuska-Atkins disease, it is a rare and recurrent disorder characterized by draining abscesses around the nipple. Zuska's breast disease can also lead to nipple retraction.
Zuska's disease is not associated with pregnancy and lactation, it can occur in one or both breasts and can cause recurrent episodes of erysipela (streptococcus bacterial infection) and the presence of painful nodules under the areola.