What is gracile syndrome?
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition’s characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation).
What is 3m syndrome?
Summary. Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities.
What are gracile australopithecines?
The gracile australopithecines (members of the genus Australopithecus) (Latin australis “of the south”, Greek pithekos “ape”) are a group of extinct hominids that are closely related to humans.
What causes 3M syndrome?
3M syndrome is caused by genetic changes in one of three genes: CUL7, OBSL1, and CCDC8. It is inherited in an autosomal recessive pattern. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved.
What is the difference between gracile and robust?
The main difference between gracile and robust is that gracile species had smaller cheek teeth, pronounced prognathism, less flared cheeks, and no sagittal crest, but robust species had enormous cheek teeth, robust jaws and massive jaw muscles, sometimes anchored to a bony crest running along the top of the skull.
Are humans gracile or robust?
The postcranial skeleton of modern Homo sapiens is relatively gracile compared with other hominoids and earlier hominins. This gracility predisposes contemporary humans to osteoporosis and increased fracture risk.
In what ways are the Paranthopoids or robust australopithecines different from their gracile relatives?
The main difference between Paranthropus and Australopithecus is that Paranthropus is more robust whereas Australopithecus is more gracile. Furthermore, Paranthropus has a more prominent sagittal crest while Australopithecus has a forward-pointing great toe, a strong heel strike, and powerful toe-off.
What is Lujan Fryns syndrome?
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome (OMIM 309520) is a syndromal X-linked form of mental retardation (mild to moderate mental retardation), associated with tall, marfanoid stature, distinct facial dysmorphism and behavioural problems. The genetic defect is not known.
What are some interesting facts about sickle cell anemia?
Five Interesting Facts about Sickle Cell Anemia. Also known as sickle cell disease, sickle cell anemia is a genetic infection that affects the red blood cells. Red blood cells are disc-shaped to allow flexibility when traveling even the tiniest blood vessels. However, sickle cell anemia causes the cells to adopt an abnormal crescent shape that
How does sickle cell anemia affect life expectancy?
– having hand-foot syndrome, which is painful swelling in the hands and feet, before the age of 1 – having a hemoglobin level that’s less than 7 grams per deciliter – having a high white blood cell count without any underlying infection
Why is sickle cell anemia so painful?
– sudden change in temperature, which can make the blood vessels narrow – very strenuous or excessive exercise, due to shortage of oxygen – dehydration, due to low blood volume – infections – stress – high altitudes, due to low oxygen concentrations in the air – alcohol – smoking – pregnancy – other medical conditions, such as diabetes
How does a person get sickle cell anemia?
How does a person get sickle cell anemia? People with sickle cell anemia inherit the disease, which means that the disease is passed on to them by their parents as part of their genetic makeup. Parents cannot give sickle cell anemia to their children unless they both have the faulty hemoglobin in their red blood cells.