Table of Contents
Is Apert syndrome dominant or recessive?
Apert syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What is the genetic cause of Apert syndrome?
Apert syndrome is caused by a change (mutation) in the fibroblast growth factor receptor-2 (FGFR2) gene. This gene plays a critical role in skeletal development.
What type of mutation is Pfeiffer syndrome?
Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the genes fibroblast growth factor receptor-2 (FGFR2) and fibroblast growth factor receptor-1 (FGFR1).
What is the difference between Pfeiffer syndrome and Crouzon syndrome?
Crouzon syndrome and Pfeiffer syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Three types of Pfeiffer syndrome exist with varying degrees of severity. With Pfeiffer syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. They also have short, broad big toes and thumbs.
What does Apert mean?
Definition of apert 1 archaic : open, manifest, evident. 2 obsolete : bold, straightforward, outspoken.
What is another name for Apert syndrome?
Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs.
What is another name for Pfeiffer syndrome?
What is Pfeiffer syndrome? Pfeiffer syndrome, also known as acrocephalosyndactyly Type V, is a genetic disorder characterized by the anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.
Is Pfeiffer syndrome detected before birth?
The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported.
What is the most common autosomal dominant disease?
Autosomal dominant disorders are the most prevalent Mendelian cardiovascular genetic disorders (Figure 8-1A). Examples of autosomal dominant cardiovascular disorders include hypertrophic cardiomyopathy (HCM), Marfan’s syndrome (MFS), hereditary long QT syndrome (LQTS), and familial hypercholesterolemia.
Why can’t Apert be cured?
Outlook / Prognosis Apert syndrome is a lifelong condition with no cure. Surgery to release pressure to the brain, along with reconstructive surgery, will occur soon after your baby is born.
Can you detect Pfeiffer syndrome before birth?
Can people with Pfeiffer syndrome live a normal life?
People with type 1 Pfeiffer syndrome can have normal lifespans, provided they do not suffer from disease complications and undergo successful treatment. People with types 2 and 3 have severe forms of this disorder and tend to have shorter life expectancies due to respiratory problems and neurological complications.
Does Pfeiffer syndrome affect intelligence?
Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system.
What are acrocephalosyndactyly syndromes?
Acrocephalosyndactyly syndromes are characterized by craniosynostosis, dysmorphic facial features, and severe syndactyly of the hands and feet. Acrocephalosyndactyly syndromes classically have been divided into five subtypes:
What does autosomal dominant mean in genetics?
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present.
Is the classification of acrocephalosyndactyly a pseudodistinction?
Furthermore, the classification of acrocephalosyndactyly versus acrocephalopolysyndactyly is regarded by many as a pseudodistinction. Acrocephalosyndactyly syndromes are characterized by craniosynostosis, dysmorphic facial features, and severe syndactyly of the hands and feet.
Is Apert syndrome autosomal dominant or dominant?
Apert syndrome (acrocephalosyndactyly) is transmitted by an autosomal dominant mode of inheritance. It is characterized by craniosynostosis, exorbitism, midface hypoplasia, and symmetric syndactyly of the hands and feet.