what is axenfeld rieger syndrome?
303701
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed.
1310945
Median arcuate ligament syndrome (MALS) is a condition in which the median arcuate ligament presses too tightly on the celiac artery (a major branch of the aorta that delivers blood to the stomach, liver, and other organs) and the nerves in the area (celiac plexus).
916309
Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese.
1285843
Introduction: Jarcho-Levin syndrome is manifested by vertebral body and rib malformations. Large rib defects with paradoxical chest motion lead to early deathdue to progressive respiratory insufficiency, hence it is a lethal syndrome.
575585
Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY).
1202356
Dysplastic nevus syndrome, also known as familial atypical multiple mole–melanoma (FAMMM) syndrome, is an inherited cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas.
672379
Some studies suggest a possible link with traumatic events, childhood illness and glandular fever. Rheumatologists define the syndrome of FMS and CFS as being caused by 'central sensitisation'.
919294
Fahr's disease, also known as familial idiopathic basal ganglia calcification, is a rare neurodegenerative disorder that is characterized by calcifications in the basal ganglia and other brain regions. Basal ganglia calcification can be asymptomatic or can be associated with neuropsychiatric and motor symptoms.
401320
Approximately 90% of patients with Stickler syndrome have mutations in the COL2A1 gene and have an autosomal dominant form of the condition. (8) Treacher Collins syndrome is an autosomal dominant condition characterized by cleft palate with or without cleft lip in 28% of affected individuals.
66472
Peripheral vascular disease (PVD), also called peripheral arterial disease (PAD), is a condition in which in which narrowed blood vessels outside the heart cannot deliver enough oxygen and nutrients to the body.
1207496
In some families, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern.
920906
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is also known as Gorlin syndrome. NBCCS is a hereditary condition characterized by multiple basal cell skin cancers.
1144820
Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end.
1232976
Background Eruptive cherry hemangiomatosis, which involves the sudden onset of multiple small vascular proliferations, has been rarely reported as a heralding sign of multicentric Castleman disease (MCD) and other lymphoproliferative diseases.
910061
Ocular Features: Enhanced S-cone syndrome, sometimes called Goldman-Favre syndrome, is a retinal disorder characterized by increased sensitivity to blue light, night blindness from an early age, and decreased vision.
630545
Osteonecrosis of the jaw (ONJ) has been reported in patients receiving XGEVA®, manifesting as jaw pain, osteomyelitis, osteitis, bone erosion, tooth or periodontal infection, toothache, gingival ulceration, or gingival erosion.
1119622
The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.