In 1988, Baraitser and Winter first described the Baraitser-Winter syndrome. This is a congenital genetic condition that affects the development of many parts of the body, especially the face, eyes and brain. Patients often have an atypical facial appearance with iris coloboma, which makes them visually impaired, and they have a mild to severe intellectual disability. Numerous other symptoms are possible with this syndrome. Treatment is mainly symptomatic and supportive.
- Synonyms Baraitser-Winter syndrome
- Clinical overlap
- Epidemiology
- Causes and heredity of the condition
- Symptoms: Abnormalities of the face, eyes and brain
- Diagnosis of patients
- Treatment of the syndrome
- Prognosis
Synonyms Baraitser-Winter syndrome
Sometimes doctors use other names for Baraitser-Winter syndrome:
- BRWS
- Cerebrofrontofacial syndrome, type 3
- Fryns-Aftimos syndrome
- Iris coloboma with ptosis (drooping eyelids), hypertelorism (widely spaced eyes) and intellectual disability
Clinical overlap
Baraitser-Winter syndrome overlaps with Fryns-Aftimos syndrome. Both conditions share the same facial and brain abnormalities. However, coloboma and the other eye abnormalities are primary symptoms of Baraitser-Winter syndrome. They are not present in Fryns-Aftimos syndrome.
Epidemiology
Baraitser-Winter syndrome is an extremely rare condition. The medical literature reports only a few dozen cases worldwide. The prevalence is therefore <1/1 000 000.
Causes and heredity of the condition
De novo mutations (medical term for “newly developed changes”) in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Actin is one of the contractile proteins of muscle tissue. The syndrome occurs in patients with no family history of the condition. The inheritance of this condition is autosomal dominant.
Symptoms: Abnormalities of the face, eyes and brain
A lot of symptoms are possible with this syndrome. However, there are some primary symptoms such as an atypical facial appearance, coloboma and brain abnormalities.
Sight
An unusual facial appearance is the most common symptom of Baraitser-Winter syndrome. Some symptoms include a wide and flat nasal bridge and a bulbous nose, a large space between the nose and the upper lip (the medical term is “philtrum”), thin lips, full cheeks, a pointed chin, a progressively coarse face and microcephaly (a too small head).
Eyes
In addition, abnormalities occur in or around the eyes, of which ocular coloboma (iris coloboma) is seen in most patients. Also possible are small eyes, small cornea, aniridia, widely spaced eyes (hypertelorism), large eyelid openings, drooping eyelids (ptosis) and high arched eyebrows, epicanthic folds (crescent-shaped skin folds of the upper eyelid that often cover the inner corner of the eye).
Brain
Patients also have structural brain abnormalities . These abnormalities involve impaired neuronal migration, a process by which nerve cells (neurons) move to the correct position in the developing brain. Pachygyria (too thick cerebral convolutions) is most often associated with Baraitser Winter syndrome. The surface of both hemispheres of the cerebrum consists of a large number of turns or gyri and these are too thick in patients. These abnormalities can cause mild to severe intellectual disability, developmental delay, and (often severe) seizures.
Other symptoms
Other features of Baraitser-Winter syndrome may include short stature, ear abnormalities and often progressive hearing loss, heart defects, an extra (duplicated) thumb, an umbilical hernia (bulge of the abdominal wall around the navel) and abnormalities of the kidneys and urinary tract. Sometimes patients with Baraitser-Winter syndrome have involuntary muscle contractions (dystonia).
Diagnosis of patients
The diagnosis is made by a pediatrician and confirmation is done via DNA testing.
Treatment of the syndrome
There is no specific treatment available, but the symptoms can be addressed individually per patient with existing therapies: special education, hearing aids, physiotherapy, low vision aids,
Prognosis
No information is known regarding the prognosis of this syndrome. However, the hearing problems are usually of a progressive nature.
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