Vici syndrome also called immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum is a rare autosomal recessive congenital disorder characterized by albinism agenesis of the corpus callosum cataracts […]
List of articles in "Disease" category - Page 221
Weaver syndrome
Weaver syndrome (also called Weaver-Smith syndrome) is a rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is […]
Netherton syndrome
Netherton syndrome is a severe autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after Earl W. Netherton (1910–1985) an American Dermatologist who discovered […]
Wilson–Mikity syndrome
Wilson–Mikity syndrome also known as pulmonary dysmaturity syndrome is a rare lung condition that affects low birth weight babies.It is closely related to bronchopulmonary dysplasia differing mainly in the lack […]
Bilirubinuria
In medicine bilirubinuria is an abnormality where conjugated bilirubin is detected in the urine.The term biliuria is very similar but more general. It refers to the presence of any bile […]
Apudoma
In pathology an apudoma is an endocrine tumour that arises from an APUD cell from structures such as the ampulla of Vater. They are derived from neural crest cells.The term […]
Pearson syndrome
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency […]
Jammed finger
The term jammed finger refers to finger joint pain and swelling from an impact injury. This injury tends to be very painful and immediate treatment will usually help heal the […]
Young–Simpson syndrome
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism heart defects facial dysmorphism cryptorchidism in males hypotonia mental retardation and postnatal growth retardation.Other symptoms include transient hypothyroidism […]
Patellofemoral pain syndrome
Patellofemoral pain syndrome (PFPS) is a syndrome characterized by pain or discomfort seemingly originating from the contact of the posterior surface of the patella (back of the kneecap) with the […]