Sage-Tips

How rare is Muenke syndrome?

Most children with Muenke syndrome have normal cognitive development. About 30\% have delayed development. Muenke syndrome happens in 1 of 30,000 newborns.

Is Muenke syndrome hereditary?

This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay . Muenke syndrome is caused by mutations in the FGFR3 gene . It is inherited in an autosomal dominant pattern.

What is Saethre Chotzen syndrome?

Saethre-Chotzen syndrome is a genetic disorder characterized by varied and broad skull, face, and limb anomalies. TWIST gene mutations are responsible for causing the early fusion of the skull.

What is Bixler syndrome?

General Discussion. Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. The disorder is typically associated with premature closure of joints (cranial sutures) between particular bones of the skull (craniosynostosis).

What are symptoms of Jacobsen syndrome?

The signs and symptoms of Jacobsen syndrome can vary. Most affected people have delayed development of motor skills and speech; cognitive impairment; and learning difficulties. Behavioral features have been reported and may include compulsive behavior; a short attention span; and distractibility.

What is the FGFR3 gene?

A gene that makes a protein that is involved in cell division, cell maturation, formation of new blood vessels, wound healing, and bone growth, development, and maintenance. A mutation (change) in the FGFR3 gene may cause the FGFR3 protein to become overactive in certain bone disorders, genetic conditions, and cancers.

Which of the following mutations is responsible for craniosynostosis in Muenke syndrome?

Causes. Muenke syndrome is caused by a specific gene mutation in the FGFR3 gene. The mutation arises randomly; there is no full understanding for what causes this mutation. This mutation causes the FGFR3 protein to be overly active; it interferes with normal bone growth, and allows skull bones to fuse prematurely.

What is Freeman Sheldon Syndrome?

Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet.

What is coronal craniosynostosis?

Coronal synostosis is one type of craniosynostosis affecting the shape of the front of the head. The term craniosynostosis refers to the premature fusion of the bones of an infant’s head. The skilled surgeons of St. Louis Children’s Hospital treat coronal synostosis and all other types of craniosynostosis in infants.

What is neonatal Progeroid syndrome?

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin ( …

What causes Roberts syndrome?

Roberts syndrome is caused by disruptions or changes of the ESCO2 (establishment of cohesion 1 homolog 2) gene located on the short arm (p) of chromosome 8 (8p21. 1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

What is Muenke syndrome and how is it characterized?

Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face. [1] [2] Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay.

What is Muenke syndrome (FGFR3)?

Muenke syndrome, also known as FGFR3-associated coronal synostosis syndrome, is a genetic disorder characterized by the anomalies if the skull and face. Gene mutations are the cause if these skull and face differences. Individuals with Muenke syndrome typically have the following conditions:

Which physical findings are characteristic of Muenke syndrome (hypertelorism)?

Hypertelorism: wide-set eyes. The upper face and eyes of patients with Muenke syndrome may be similar to patients with other forms of syndromic craniosynostosis, but they typically do not develop midface hypoplasia or retrusion of the midface that requires surgery. Hand and limb anomalies are also uncommon in this syndrome.

How can I tell if my child has Muenke?

Your child’s features will help the doctor tell whether they have Muenke syndrome or another condition. A CT (computed tomography) scan of your child’s head can give the doctor more information and help us plan the best treatment for your child.