What is Beare Stevenson syndrome?

Overview. Beare-Stevenson cutis gyrata

cutis gyrata

Cutis verticis gyrata is a medical condition usually associated with thickening of the scalp. The condition is identified by excessive thickening of the soft tissues of the scalp and characterized by ridges and furrows, which give the scalp a cerebriform appearance.

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syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis).

What causes Beare-Stevenson syndrome?

Beare-Stevenson cutis gyrata syndrome is caused by genetic changes in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new genetic changes in the gene and occurred in people with no history of the disorder in their family.

How rare is Beare-Stevenson syndrome?

Beare–Stevenson cutis gyrata syndrome is so rare that a reliable incidence cannot be established as of yet; fewer than 25 patients with the condition have been reported.

How common is Beare-Stevenson syndrome?

Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Approximately 25 people with this condition have been reported worldwide.

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.

King's Tale (Living with Beare-Stevenson Syndrome)

What causes Coffin Lowry Syndrome?

Causes. Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene on the X chromosome. Some individuals with Coffin-Lowry syndrome do not have a detectable mutation in the RPS6KA3 gene. Coffin-Lowry syndrome is inherited in an X-linked dominant pattern.

What is Nager Miller syndrome?

Collapse Section. Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ).

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 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).

Does Pfeiffer syndrome affect intelligence?

Intelligence is usually normal. Pfeiffer syndrome type II is characterized by a more severe form of craniosynostosis (Cloverleaf skull), with more severe hand and foot anomalies and additional malformations of the limbs.

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 Freeman Sheldon Syndrome?

General Discussion. Summary. 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 life expectancy of someone with Williams syndrome?

Outlook / Prognosis

Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life expectancy due to complications of the disease (such as cardiovascular problems). Oftentimes, people with Williams syndrome will need additional support as they grow into adults.

At what age is Williams syndrome diagnosed?

Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.

Can William syndrome be cured?

There is currently no cure for Williams syndrome. Treatment aims to support the person and manage associated symptoms. There may be many physical, developmental, intellectual and social problems present in Williams syndrome, which may require a team of health professionals.

What is Townes Brock syndrome?

Townes-Brocks syndrome (TBS) is a genetic condition caused by a harmful change (mutation) in a gene called SALL1. Features include no anal opening (imperforate anus) and differently shaped ears and thumbs. There can also be problems with the feet, heart and kidneys.

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 Phelan McDermid Syndrome?

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.

How common is Coffin-Lowry syndrome?

The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.

Are there prenatal tests for Coffin-Lowry syndrome?

Facial anomalies and for the diagnosis typical findings of the hands were not present. In the third pregnancy prenatal diagnosis was performed by chorionic villus sampling (CVS) and resulted in a female fetus affected with Coffin-Lowry syndrome.

Can someone with Williams syndrome live alone?

A degree of mental retardation is present in the majority of people with the disorder, and while some adults with Williams-Beuren syndrome have the ability to live independently, completing vocational or academic school and living on their own or in supervised homes, the majority of people with this disorder live with ...

Can a person with Williams syndrome have children?

Can people with Williams Syndrome have a child/children of their own? There are no significant physical reasons why people with Williams Syndrome cannot conceive normally, but their own health may pose a potential risk, particularly if they have a heart condition.

Is Williams syndrome a form of autism?

Williams Syndrome (WS) is not an autism spectrum disorder (ASD), although there is some overlap between the two conditions. WS and ASD have opposite characteristics in the social domain, but share some common behavioral and cognitive deficiencies.

What syndrome causes a flat face?

Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of the nose between the eyes). The tip of the nose is also flat and broad.