What Disease Causes Facial Disfigurement?

What disease makes your face deformed?

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face. Craniofacial abnormalities tend to involve underdevelopment of the zygomatic complex, cheekbones, jaws, palate and mouth which can lead to breathing and feeding difficulties.

What syndrome affects the facial features?

Description. 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 causes 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 symptoms of Treacher Collins syndrome?

What Are the Signs & Symptoms of Treacher Collins Syndrome?

• downward slant of the outer corners of the eyes.
• drooping upper eyelids.
• notches in the lower eyelids with few, if any, lower lid eyelashes.
• small cheekbones.
• fewer teeth than usual; they may be crooked and have patchy coloring.

What is Kabuki syndrome?

What is Kabuki syndrome? Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems.

What is Williams syndrome disease?

Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.

What is Mowat Wilson syndrome?

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

What does Angelman syndrome look like?

Adults with Angelman syndrome have distinctive facial features that may be described as “coarse .” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis ). The life expectancy of people with this condition appears to be nearly normal.

What does Noonan syndrome look like?

Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small. Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Head may appear large with a prominent forehead and a low hairline on the back of the head.

What is Timothy syndrome?

Timothy syndrome (TS), also referred to as long QT syndrome type 8 (LQT8), is a rare multisystem genetic disorder affecting the heart and several other organs, including the skeleton, metabolic system, and brain [1–3].

What is Lancaster syndrome?

The condition is characterised by severe, disabling fatigue and a combination of other symptoms including muscular pain, concentration problems and intolerance to exercise.

What is Jacobsen syndrome?

Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment.

How common is Williams syndrome?

Frequency. Williams syndrome affects an estimated 1 in 7,500 to 18,000 people.

What is Aperts syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones. It is characterized by deformities of the skull, face, teeth, and limbs. Apert syndrome occurs in one out of every 65,000 to 88,000 births.

What is Pierre Robin sequence syndrome?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

How common is Waardenburg syndrome?

Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.

What’s the opposite of Asperger’s syndrome?

According to the diametric model, psychotic spectrum disorders (PSDs) are the mentalistic opposite of autistic spectrum ones (ASDs). ASDs are hypo-mentalistic, meaning deficits in our innate ability to understand behavior in mental terms, but PSDs are hyper-mentalistic, with excessive mentalizing in all its forms.

What is the extreme opposite of autism?

In some ways Williams syndrome is the opposite of autism. For example, people with Williams syndrome love to talk and tell stories, whereas those with autism usually have language delay and little imagination. Many people with Williams syndrome draw disjointed pictures, some with autism draw pictures in perfect detail.

What is Kabuki syndrome causes?

Causes. Expand Section. Kabuki syndrome is caused by variants (also known as mutations) in the KMT2D gene (also known as MLL2) or the KDM6A gene. Between 55 and 80 percent of cases of Kabuki syndrome are caused by variants in the KMT2D gene.

What is Highlander syndrome?

The development of highlander syndrome in human patients suggests that humans might possess the genes that enable the property of eternal youth. The actualization of eternal youth is a long-held dream, and numerous studies have been performed to elucidate the mechanisms of aging and to achieve eternal youth.