Summary.
Disease Overview
Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability. Possible facial features are a sloping forehead and “beak-like” nose. Other features may include large eyes, a narrow face, ears of a different shape and/or a small jaw (micrognathia).
Children with Williams syndrome typically have a personality that is friendly, outgoing, and/or talkative. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. Mild to moderate mental retardation may occur.
Seckel Syndrome Life Expectancy
There is no confirmed evidence of life expectancy but individuals with Seckel syndrome are known to have a life expectancy of more than 50 years.
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe ...
Genetics. It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein (ATR) which maps to chromosome 3q22.
2 Seckel Syndrome. First of the microcephalic dwarfism syndromes to be described was Seckel syndrome (SS), with a focus on the microcephaly and facial features, which were noted to be “bird-like” with a large, beaked nose, a sloping forehead, and micrognathia.
Hutchinson-Gilford Progeria Syndrome (HGPS)
The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported.
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures.
Overview. Williams syndrome is a rare genetic condition that causes facial characteristics including epicanthal folds at the eyes, large ears, an upturned nose, full cheeks, a wide mouth, a small jaw and small teeth.
Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss.
What is Williams syndrome? Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties.
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.
Most patients with Williams syndrome are diagnosed as a newborn or in early childhood. The average age of diagnosis is around three and a half years.
It was first described by Meinhard Robinow in 1969. According to the first literature it is a rare genetic disorder having features like short stature, abnormalities in the head, face, external genitalia associated with vertebral segmentation defects [2]. This anomaly is very rarely reported. Incidence is 1 in 500,000.
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.
Angelman syndrome
A rare syndrome causing physical and intellectual disability. It can't be cured, but some therapies can improve the quality of life of those affected....
Alkaptonuria. Frequency: one in one million people globally. Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that prevents the body from fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine.
cancer. dementia, including Alzheimer's disease. advanced lung, heart, kidney and liver disease. stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.
Description. 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.
The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes. short stature (restricted growth) heart defects (congenital heart disease)
Moebius syndrome is a rare birth defect that mainly affects the muscles that control facial expression and eye movement. It is caused by the absence or underdevelopment of the sixth and seventh cranial nerves, which control eye movements and facial expression.