What are other names for Apert syndrome?

Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome

genetic syndrome

When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size).

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Genetic disorder - Wikipedia

characterized by anomalies of the skull, face and limbs.

Are there any other names for Apert syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. Apert syndrome can occur between 1 out of every 60,000 to 80,000 births.

Is Crouzon syndrome the same as Apert syndrome?

Crouzon syndrome and Apert syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Apert syndrome is similar but more severe. With Apert syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. In addition, they may have fused or webbed fingers and toes.

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 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).

Apert syndrome

What is Cohen's syndrome?

Cohen syndrome is a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability.

What is Pallister Killian syndrome?

This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.

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 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 Wolf Hirschhorn Syndrome?

Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.

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 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 does Crouzon syndrome look like?

Crouzon syndrome is associated with additional craniofacial abnormalities. Affected individuals often have a prominent forehead (frontal bossing); a curved nose; unusually flat or underdeveloped mid-facial regions (midface hypoplasia); and a short upper lip.

What is it called when 2 toes are stuck together?

The medical term for two or more fingers or toes that are fused together or “webbed” is syndactyly (sin-dak-tuh-lee).

What is the life expectancy of someone with Apert syndrome?

Life expectancy also varies between children with Apert syndrome. Those with Apert syndrome who survive past childhood and don't have heart problems likely have a normal or near-normal life expectancy. Life expectancy is likely improving because of advances in surgical techniques and follow-up care.

Can people with Apert syndrome have kids?

Our genetic counselors also advise people with Apert syndrome about their chance of having a child with the condition. A person with Apert syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.

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 is Freeman Sheldon Syndrome?

Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.

What is Rubinstein Taybi syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What are the symptoms of Jacobsen syndrome?

These include small and low-set ears, widely set eyes (hypertelorism ) with droopy eyelids (ptosis ), skin folds covering the inner corner of the eyes (epicanthal folds ), a broad nasal bridge , downturned corners of the mouth , a thin upper lip , and a small lower jaw .

How rare is Hallermann Streiff syndrome?

Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair-growth, and dental development. There are fewer than 200 people with the syndrome worldwide.

Is Edwards Syndrome genetic?

Edwards syndrome (trisomy 18) is a genetic condition that causes physical growth delays during fetal development. Life expectancy for children diagnosed with Edwards syndrome is short due to several life-threatening complications of the condition.

What disease does taka Higgins have?

Crouzon syndrome is a rare inherited disorder in which many of the flexible seams (sutures) in a baby's skull turn to bone and fuse too early. Early fusion of the skull is the hallmark of a group of conditions called craniosynostoses.

What genetic disorder causes bulging eyes?

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.

What does sagittal Synostosis mean?

Sagittal synostosis (scaphocephaly) is the premature closure of the sagittal suture of the skull that causes abnormal growth of the skull resulting in a long and narrow head shape with fullness (bossing) of the forehead.