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Baraitser-Winter syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Baraitser-Winter syndrome

Baraitser-Winter syndrome is a rare condition affecting the development of multiple body parts, particularly the face and brain, leading to distinctive facial features, structural brain abnormalities, intellectual disability, developmental delay, and seizures.

Overview

Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the .

An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include:

  • Widely spaced eyes (hypertelorism)
  • Large eyelid openings
  • Droopy eyelids (ptosis)
  • Coloboma
  • A broad nasal bridge and bulbous nasal tip
  • A long space between the nose and upper lip (long philtrum)
  • Thin upper lip
  • A small chin

Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.

Other features of Baraitser-Winter syndrome can include:

  • Short stature
  • Ear abnormalities and hearing loss
  • Heart defects
  • Presence of an
  • Abnormalities of the kidneys and urinary system
  • Limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time
  • Involuntary muscle tensing (dystonia) (rarely)

Frequency

Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have been reported in the medical literature.

Causes & Risk Factors

Baraitser-Winter syndrome can result from mutations in either the ACTB gene or ACTG1 gene. These genes provide instructions for making proteins called beta (β)-actin and gamma (γ)-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.

Mutations in the ACTB or ACTG1 gene alter the function of β-actin or γ-actin. The malfunctioning causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.

Genes Associated with Baraitser-Winter Syndrome

  • ACTB
  • ACTG1

Inheritance

This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.

Other Names

  • BRWS
  • Cerebro-frontofacial syndrome, type 3
  • Fryns-Aftimos syndrome
  • Iris coloboma with ptosis, hypertelorism, and mental retardation

Frequently Asked Questions

Baraitser-Winter syndrome is typically caused by new (de novo) mutations in the ACTB or ACTG1 genes, meaning the mutation occurs spontaneously and is not inherited from either parent. In these cases, the risk of parents having another child with the syndrome is very low. However, if an affected individual has children, there is a 50% chance with each pregnancy that they will pass on the mutation, as it is inherited in an autosomal dominant pattern.
Management is multidisciplinary and focuses on symptom relief and maximizing developmental potential. Early intervention therapies like physical therapy, occupational therapy, and speech therapy are vital for addressing developmental delays and motor challenges. Seizures are managed with anti-epileptic medications tailored to the individual's specific seizure type. Educational support and specialized learning programs are also crucial for intellectual disability.
Diagnosis is usually based on a combination of distinctive clinical features, such as the characteristic facial appearance, developmental delays, and neurological symptoms like seizures. Brain imaging, such as an MRI, is crucial to identify structural abnormalities like pachygyria or lissencephaly. Genetic testing, specifically looking for mutations in the ACTB or ACTG1 genes, confirms the diagnosis.
Due to the wide range of affected body systems, care involves a team of specialists. This typically includes a neurologist for brain abnormalities and seizures, a geneticist for diagnosis and counseling, a developmental pediatrician for overall development, an ophthalmologist for eye issues, an audiologist for hearing loss, and a cardiologist for heart defects. Orthopedic specialists may also be involved for joint and skeletal issues.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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