What is Carpenter's syndrome?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

What causes Carpenter's syndrome?

Most cases are caused by mutations in the RAB23 gene. In several affected individuals, Carpenter syndrome was caused by mutations in the MEGF8 gene; these individuals are referred to as having Carpenter syndrome type 2. Both types of Carpenter syndrome are inherited in an autosomal recessive manner.

Is there a cure for Carpenter syndrome?

The treatment of Carpenter syndrome is focused on correction of the abnormal skull shape. It is the same as the treatment of craniosynostosis. Surgical correction of the craniosynostosis associated with Carpenter syndrome is most often initiated between 6 and 12 months of age.

What are the symptoms of Apert syndrome?

What does Apert syndrome look like?

The abnormal skull and facial growth in Apert syndrome produce its main signs and symptoms: A head that is long, with a high forehead. Wide-set, bulging eyes, often with poorly-closing eyelids. A sunken middle face.

What is Carpenter syndrome?

What is Jackson Weiss syndrome?

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, even among affected members of the same family.

What is Noonan syndrome?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What causes Cornelia de Lange syndrome?

Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected. More than half of people with CdLS have mutations in the NIPBL gene.

What is Beckwith Wiedemann syndrome?

Beckwith-Wiedemann syndrome is a genetic disorder commonly characterized by overgrowth. The severity of this disorder varies widely in children and is usually recognized at birth, when a child is born with several features of Beckwith-Wiedemann syndrome. However, few children have all the associated characteristics.

How many people have aarskog?

However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the general population. An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.

How early can you detect Pfeiffer syndrome?

Pfeiffer syndrome is usually diagnosed at birth, based on the appearance of your child's face and skull. Our expert craniofacial team will confirm a diagnosis of this condition and help you make decisions about your child's care.

What causes football shaped head?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

What is Laurence moon syndrome?

Summary. Laurence-Moon syndrome (LNMS) is a genetic condition that results in a complex association of problems that affect several different body parts. People with LNMS may have difficulties with functions of the brain, eyes, ears, stomach, kidneys, hands and feet.

What is clover leaf syndrome?

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 the life expectancy of someone with Cornelia De Lange syndrome?

Life expectancy is relatively normal for people with CdLS and most affected children live well into adulthood. However, certain features of this condition, particularly severe malformations of the heart or throat, may decrease life expectancy in some affected people.

How do you test for Cornelia de Lange?

Prenatal diagnosis is available if a specific NIPBL, SMC1A, SMC3, Rad21, HDAC8, ANKRD11 or BRD4 gene mutation has been identified. Sometimes a diagnosis of CdLS may be suspected before birth (prenatally) through the use of ultrasound imaging.

Does Cornelia De Lange syndrome affect the brain?

Abstract. Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations.

Are there any celebrities with Williams syndrome?

One notable person with the syndrome is Gabrielle Marion-Rivard, a Canadian actress and singer who won the Canadian Screen Award for Best Actress in 2014 for her performance in the film Gabrielle. Another is Jeremy Vest, member of the How's Your News? team, featured in the TV series and film of the same name.

Can you have Williams syndrome without knowing?

Williams syndrome may be undiagnosed, which means that many people with the disorder fail to get the support and treatment they need until later in life.

What is the treatment for William syndrome?

There is no specific cure for Williams syndrome, so care is focused on treating specific symptoms or cardiovascular problems. Children with Williams syndrome who have a heart defect may need heart catheterization or surgery to repair the problem, including: ballooning or stenting of blood vessels.

What is Mowat Wilson syndrome?

General Discussion. Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures.

What does the 10th chromosome do?

The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in cancer.

Is DiGeorge syndrome genetic?

DiGeorge syndrome is caused by a problem with a person's genes, called 22q11 deletion. It is not usually passed on to a child by their parents, but it is in a few cases. It's often diagnosed soon after birth with a blood test to check for the genetic fault.

Is Ectrodactyly genetic?

General Discussion. Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another.