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1 in 20,000 to 1 in 7,500 [4] Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with ...
Greater trochanteric pain syndrome. Greater trochanteric pain syndrome ( GTPS ), a form of bursitis, is inflammation of the trochanteric bursa, a part of the hip . This bursa is at the top, outer side of the femur, between the insertion of the gluteus medius and gluteus minimus muscles into the greater trochanter of the femur and the femoral shaft.
Rubinstein–Taybi syndrome ( RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. [2] Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene ...
Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, hypermetropia, microphthalmia, and skeletal abnormalities. [1] This subtype of Kenny-Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. [2]
Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery. The front third of the eye is ...
Urinary retention is a relatively uncommon presentation in young women. Fowler's syndrome primarily presents in women between menarche and menopause. The peak age of onset is 26 yrs. [5] It is seen in about one third of the women who experience urinary retention. The predominant complaint is the inability to urinate for a day or more with no ...
Osgood–Schlatter disease ( OSD) is inflammation of the patellar ligament at the tibial tuberosity ( apophysitis) [3] usually affecting adolescents during growth spurts. [5] It is characterized by a painful bump just below the knee that is worse with activity and better with rest. [3] Episodes of pain typically last a few weeks to months. [6]
A primary ossification center is the first area of a bone to start ossifying. It usually appears during prenatal development in the central part of each developing bone. In long bones the primary centers occur in the diaphysis /shaft and in irregular bones the primary centers occur usually in the body of the bone.