Definition. Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.
What is the life expectancy of someone with Coffin-Lowry Syndrome?
There are several case reports of rapidly progressive kyphosis and acute paralysis. This presents a significant problem and may dramatically shorten the life span of a CLS patient. Current literature reports life expectancy as a mean of 20.5 years.
What are the physical symptoms of Coffin-Lowry Syndrome?
Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.
How many people have Coffin-Lowry syndrome in the world?
The incidence of this condition is uncertain, but researchers estimate that the disorder affects 1 in 40,000 to 50,000 people.
What are the chances of a person with Coffin-Lowry Syndrome passing the disease to their offspring?
Women with CLS have a 50% chance of transmitting the pathogenic variant to each child; sons who inherit the pathogenic variant will be affected; daughters will be heterozygous and at high risk for at least some degree of developmental delay and mild physical signs of CLS.
Can Coffin-Lowry Syndrome be treated?
There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms.
Is Aicardi syndrome hereditary?
Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition.
What is Cardiofaciocutaneous syndrome?
Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; relatively large head (relative macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual ...
How is Coffin Lowry syndrome treated?
Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.
Is Coffin Siris syndrome the same as Coffin-Lowry Syndrome?
Main. In 1966 Coffin, Siris, and Wegienka1 described a syndrome in two unrelated boys that has become known as the Coffin-Lowry Syndrome (CLS).
Can people with Aicardi syndrome talk?
Nearly all children with the disorder have some type of intellectual disability or developmental delay. However, other symptoms can vary significantly depending on the person. Some children with Aicardi syndrome can speak in short sentences and walk by themselves.
Is Aicardi syndrome detectable prior to birth?
The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.
What is Leopard syndrome?
Multiple lentigines syndrome; LEOPARD syndrome; NSML. Noonan syndrome with multiple lentigines (NSML) is a very rare inherited disorder. People with this condition have problems with the skin, head and face, inner ear, and heart. The genitals may also be affected. Noonan syndrome was formerly known as LEOPARD syndrome.
What causes Cardiofaciocutaneous syndrome?
Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2.
How does Coffin-Siris syndrome affect speech?
Speech Delay: Development of speech abilities may be delayed in those with Coffin-Siris syndrome. Distinctive Facial Features: These include wide nose, thicker eyelashes and brows, thick lips, wider mouth, and flat nasal bridge. The eyes may also appear abnormal.
How common is Coffin-Siris syndrome?
Coffin-Siris syndrome is a rare condition that, for unknown reasons, is diagnosed in females more frequently than in males. Approximately 200 cases have been reported in the medical literature.
How do you get tested for Aicardi syndrome?
Individuals with Aicardi syndrome should have a test to look at the brain waves (EEG) to diagnose and treat seizures. An ophthalmologist should look into the eyes at the retina. In Aicardi syndrome, this almost always reveals small cream-colored cavities (lucunae) within the retina.
Did Einstein have a corpus callosum?
Albert Einstein had a colossal corpus callosum. Stretching nearly the full length of the brain from behind the forehead to the nape of the neck, the corpus callosum is the dense network of neural fibers that make brain regions with very different functions work together.