What is Pfeiffer syndrome caused by?

Pfeiffer syndrome is most commonly caused by mutations in the FGFR2 gene. Mutations in the FGFR1 gene cause a small percentage of cases of type 1 Pfeiffer syndrome. Mutations in this gene have not been associated with type 2 or 3.

What is Gregory syndrome?

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area.

How long do people live with Cornelia de Lange syndrome?

Answer. Life expectancy is relatively normal for people with Cornelia de Lange syndrome and most affected children live well into adulthood. For example, one article mentioned a woman with Cornelia de Lange syndrome who lived to age 61 and an affected man who lived to age 54.

What is Pfizer syndrome?

Pfeiffer syndrome is an autosomal dominant genetic disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.

Does Pfeiffer syndrome affect speech?

Children with Pfeiffer syndrome may have learning disabilities or developmental delay, most commonly affecting speech development. The hands and feet are also affected in Pfeiffer syndrome.

What is Williams Beuren syndrome?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.

What is McKusick Kaufman syndrome?

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 a cephalic disorder?

Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means “head” or “head end of the body.”.

What is Cephalus known for in Greek mythology?

Cephalus of Phocis was a mortal prince in Greek mythology, famous for being the husband of Procris, the Athenian princess. At one time Cephalus was the owner of the legendary hunting dog Laelaps, and also a comrade of the Theban general Amphitryon .

Is Cephalus related to Phylacus?

Cephalus was a son of Deioneus, the king of Phocis, and his wife Diomede. Thus Cephalus was sibling to Actor, Aenetus, Asterodia and Phylacus. Cephalus would travel from Phocis to Athens were he fell in love with Procris, the daughter of the king of Athens, Erechtheus.

What is the difference between cephalic and congenital?

Cephalic is a term that means “head” or “head end of the body.” Congenital means the disorder is present at, and usually before, birth. Although there are many congenital developmental disorders, this fact sheet briefly describes only cephalic conditions.