Wiedemann–Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone. The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012.
Some degree of developmental delay/intellectual disability, usually mild to moderate, is often present, although it can range from very mild to severe. Behavioral problems are common and include features of autism and attention deficit and hyperactivity disorder.
There is currently no evidence that the life expectancy of individuals with Wiedemann-Steiner syndrome (WSS) is less than the average population. Due to the paucity of data available, the most frequent cause of death or long-term complications and risks are unknown.
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, growth delay, and intellectual disability. Signs and symptoms vary, but facial features may include thick eyebrows, wide-spaced eyes, and narrow eye openings.
Wiedemann-Steiner Syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc.
Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
The physical features of Beckwith-Wiedemann syndrome often become less noticeable as children grow. They are often larger than their peers during childhood, but their growth slows as they get older. By adolescence, growth tends to normalize and cancer risk decreases.
Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder that has dysmorphic facial characteristics, including long lashes, thick or arched eyebrows, a wide bridge of the nose, and vertically narrow palpebral fissures, and a short stature.
Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.
Wiedemann-Steiner syndrome (WSS) is a rare genetic condition that can affect multiple organ systems. Many patients with this condition have symptoms including developmental delay, intellectual disability or autism and excessive hair growth in unusual places on the body (hypertrichosis).
Unless a child has had untreated low blood sugar or other medical complication, there's no indication that Beckwith-Wiedemann Syndrome affects children's intellectual ability. Some children who have physical differences such as macroglossia (large tongue) that can affect speech may have some developmental delays.
These syndromes include Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome.
Signs and symptoms of Cornelia de Lange syndrome
Common physical characteristics of CdLS include: Similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set ears)
The mutation is inherited as an autosomal dominant trait, which means that only one copy of the mutated gene is needed to pass down the disorder. However, CDKN1C is normally only maternally expressed, and therefore, the offspring will only be affected (i.e. have BWS) if the mutation is passed from mother to offspring.
Beckwith-Wiedemann syndrome (BWS) is a rare genetic disease, characterized by macrosomia, congenital malformations and tumor predisposition, associated with genetic and epigenetic alterations in the 11p15 region.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY male) and fragile X syndrome, and syndromes ...
People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma.
Children with macroglossia have tongues that are disproportionately large for their mouths. In some cases, the tongue may protrude from the mouth and interfere with the child's tooth placement, ability to eat, and/or speech development.
Macroglossia is most often caused by an increase in the amount of tissue on the tongue, rather than by a growth, such as a tumor. This condition can be seen in certain inherited or congenital (existing at birth) disorders, including: Acromegaly (buildup of too much growth hormone in the body)
Macroglossia, sometimes called giant tongue or enlarged tongue, is a rare condition that typically affects more children than adults. Most people have macroglossia because they have other conditions, such as Beckwith-Wiedemann syndrome or Down syndrome.
Anophthalmia is a birth defect where a baby is born without one or both eyes. Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small.
Symptoms of Crouzon Syndrome
Bulging, wide-set eyes. Bone deformities in the middle of the face. Jaw deformities such as a receding upper jaw or a protruding lower jaw. Sleep apnea or difficulty breathing because of facial deformities.
Most infants exhibit some degree of eyelid edema after birth. The puffiness may make it seem that the infant has difficulty opening one or both eyes, but with a gentle examination, the eye can be easily evaluated. Edema resolves over the first few days of life.