What causes Soto syndrome?
What causes Soto syndrome?
Sotos syndrome is caused by mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1).
What is cloverleaf skull?
Cloverleaf deformity is an extremely rare skull deformity that happens when several joints (sutures) between a baby’s skull bones begin to fuse too early. Also known as Kleeblattschädel syndrome, the cloverleaf deformity causes bulging at the front and sides of the skull, resembling a cloverleaf shape.
What is craniosynostosis?
Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. As the baby’s brain grows, the skull can become more misshapen.
What is sodos?
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
How long do people live with Sotos?
Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood. Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy.
Can you have Williams syndrome without knowing?
Each of the tests is highly reliable (greater than 95%). Many individuals with Williams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possibly progressive medical problems.
Are there any celebrities with Williams syndrome?
Several famous (or recognizable) people have been diagnosed with Williams syndrome, which include: Amy Kotch, featured in KLRU-TV’s public media. Gloria Lenhoff, a soprano singer who has performed with Aerosmith, and the San Diego Master Chorale. Ben (Big Red) Monkaba, a member of the Black Cat community theater.
When does a child’s skull fuse?
Around two years of age, a child’s skull bones begin to join together because the sutures become bone. When this occurs, the suture is said to “close.” In a baby with craniosynostosis, one or more of the sutures closes too early. This can limit or slow the growth of the baby’s brain.
How big is Paracas’s skull?
Paracas skulls are at least 25% larger and up to 60% heavier than the skulls of regular human beings. The researchers strongly believe that these characteristics could not have been achieved with the techniques used by the tribes as some scientists suggest.
Where is Paracas located?
Paracas is a desert peninsula located within the province of Pisco, in the Ica Region, on the southern coast of Peru. It is here that the Peruvian archaeologist Julio C. Tello made one of the most mysterious discoveries in 1928.
What do we know about the elongated skulls?
Yesterday in Los Angeles at the Elongated Skulls Symposium, L.A. Marzulli, Brien Foerster and their team of researchers announced some new DNA test findings. Biologist Brien Foerster, who actually lives in Paracas and who un-earthed some of these elongated skulls, gives the following information regarding the latest DNA results…
What did Tello discover in the Paracas Cemetery?
During the excavations, Tello discovered a complex and sophisticated cemetery in the rough soil of the Paracas desert. In the enigmatic tombs, Tello discovered a series of controversial human remains that would forever change how we look at our ancestors and our origins.