Can people with Nager syndrome have kids?

Most cases occur as a new (sporadic or de novo) mutation at the time of the formation of the egg or sperm for that child only, and no other family members are affected. An individual who is the first one in the family to have Nager syndrome does, however, still have a 50% risk to transmit it to his or her children.

Does Nager syndrome affect intelligence?

Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs .

Can you talk with Nager syndrome?

Because this condition causes side effects like hearing loss due to underdevelopment of certain parts of their anatomy, children may face developmental delays like learning how to speak. Nager syndrome typically doesn't affect the intelligence (cognitive development) of the person diagnosed with this condition.

What causes Treacher Collins syndrome?

Causes. Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases.

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.

Nager Syndrome gene

Can you live a normal life with Williams syndrome?

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.

Does Williams syndrome make you friendly?

People with Williams syndrome are described as having exceptionally friendly personalities, extremely sensitive and empathic, and therefore are also called “love children.” Williams syndrome is a genetic disorder caused by the deletion of one of the two copies of about 26 genes found on chromosome 7 in humans [1].

Does TCS affect the brain?

Brain and behavioral anomalies such as microcephaly and psychomotor delay have also been occasionally reported as part of the condition. The specific symptoms and physical characteristics associated with TCS can vary greatly from one individual to another.

How long do people live with Treacher Collins?

A patient diagnosed with Treacher Collins syndrome (TCS) may expect to have approximately the same lifetime as the general population with proper management and a healthy lifestyle. The life expectancy is normal as long as breathing problems during infancy are managed well.

Is Treacher Collins syndrome painful?

Symptoms of Treacher Collins syndrome can be mild or severe. It usually affects the cheekbones, jaws, eyes and ears. Your child may look different and may have problems with breathing, chewing, seeing, hearing or speaking.

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 causes small jaw?

A child with micrognathia has a lower jaw that's much shorter or smaller than the rest of their face. Children may be born with this problem, or it can develop later in life. It mainly occurs in children who are born with certain genetic conditions, such as trisomy 13 and progeria.

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.

How common is Megalencephaly?

How common is megalencephaly? Megalencephaly isn't common. It affects between 2% and 6% of children, although many cases don't cause significant problems. In people with macrocephaly, 10% to 30% also have megalencephaly.

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 Pierre Robin syndrome?

Often called Pierre Robin sequence, the disease is a chain of developmental malformations, each leading to the next. The condition is characterized by a smaller-than-normal lower jaw, a tongue that falls back in the throat and airway obstruction. In many cases, your child will also have cleft palate.

Can you grow out of Treacher Collins syndrome?

Unfortunately, there's no cure for Treacher Collins syndrome. But healthcare providers have many ways to help. There are surgeries to ease breathing difficulties and hearing loss, as well surgeries known as craniofacial reconstructions to help correct your child's facial differences.

Can Treacher Collins syndrome be prevented?

In most cases, the child's intelligence is unaffected. Treacher Collins syndrome is either inherited or caused by a new change in a gene at the time of conception. There is no cure, but skull and face (craniofacial) surgery can improve speech and reduce some of the more severe craniofacial anomalies.

Is Treacher Collins syndrome a disability?

Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins syndrome do not present with intellectual disability.

How is TCS inherited?

TCS is inherited in an autosomal dominant manner and the penetrance of the affected gene is almost complete. Some recent investigations, though, described some rare cases in which the penetrance in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance or germline mosaicism.

How does the TCS affect the person's appearance?

People with TCS often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some individuals have additional eye abnormalities that can lead to vision loss. It also characterized by absent, small, or unusually formed ears.

Is Treacher Collins syndrome more common in males or females?

Who gets Treacher Collins syndrome? Treacher Collins syndrome is a rare congenital condition that occurs in 1 of 10,000 newborn babies in a 1:1 male to female ratio.

Is William syndrome a disability?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

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.

Is ectrodactyly a disability?

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).