How rare is Greig cephalopolysyndactyly syndrome?
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000).
How many people have greigs?
There have been over 200 patients with this disorder reported in the medical literature. However, because some affected individuals may exhibit few and/or mild symptoms, they may never be diagnosed with the disorder.
What is a rare genetic syndrome?
KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.
What are extra fingers called?
Polydactyly (polly DAK tuh lee) refers to extra fingers or toes (digits) that are present at birth (See Pictures 1 and 2).
What is Alexander disease?
Alexander disease is a rare genetic disorder that progressively damages the nervous system. It is a type of leukodystrophy, a group of conditions that affect the white matter of the brain.
What is McKusick Kaufman syndrome?
Description. Collapse Section. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities.
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.
What is the rarest genetic?
With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.
What is andermann syndrome?
Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum ) also occurs in most people with this disorder.