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Baraitser-Winter syndrome

Baraitser-Winter syndrome




Overview

Baraitser-Winter Cerebrofrontofacial (BWCFF) syndrome is a very rare genetic disorder (less than 100 reported cases) characterized by facial dysmorphism, brain malformations, and intellectual disability. Common symptoms include widely spaced eyes (hypertelorism), droopy eyelids (ptosis), high-arched eyebrows, and epilepsy. The condition is caused by heterozygous mutations in the ACTB or ACTG1 genes, which are essential for cellular structure and function.

Symptoms

Distinctive Craniofacial Features (100% frequency):

Widely spaced eyes (hypertelorism).

Droopy eyelids (bilateral ptosis).

High-arched eyebrows.

Broad nasal bridge and tip.

Prominent metopic ridge (a ridge along the forehead).

Pointed chin.

Cleft lip/palate, although less common.

Neurological and Developmental:

Intellectual disability (mild to severe).

Developmental delay.

Brain malformations: Frontal pachygyria (thickened brain surface) or lissencephaly (smooth brain).

Epilepsy/Seizures.

Muscle hypotonia (low muscle tone) and spasticity.

Ocular (Eye) Abnormalities:

Iris or retinal coloboma (missing pieces of tissue in the eye).

Severe myopia (nearsightedness).

Musculoskeletal and Physical:

Short stature.

Joint contractures (limited movement of elbows and knees).

Wasting of shoulder girdle muscles.

Other Potential Symptoms:

Sensorineural hearing loss.

Renal/urinary tract abnormalities (e.g., hydronephrosis).

Cardiac defects.

Gastrointestinal issues (e.g., feeding difficulties, chronic constipation). 

Causes

The syndrome results from specific heterozygous mutations in either of the two cytoplasmic actin-encoding genes: 

ACTB (Baraitser-Winter Syndrome 1): Typically causes more severe forms of the syndrome, per.

ACTG1 (Baraitser-Winter Syndrome 2): Causes similar features to ACTB mutations. 

Brain Malformations: The most frequent abnormality is pachygyria (a brain with unusually smooth surfaces and fewer folds), which causes developmental delays and seizures.

Facial Features: Distinctive features include widely spaced eyes (hypertelorism), drooping eyelids (ptosis), highly arched eyebrows, and a broad nasal bridge.

Physical Issues: Other common findings include intellectual disability, intellectual impairment, short stature, deafness, and structural heart or renal issues. 

Diagnosis

Molecular Testing: Sequencing of ACTB or ACTG1 genes is necessary to confirm the diagnosis.

Neuroimaging (Brain MRI): Essential for identifying characteristic brain malformations like pachygyria, often with a front-to-back severity gradient (anterior-predominant).

Clinical Features: Often identified through characteristic facial features: widely spaced eyes (hypertelorism), droopy eyelids (ptosis), high-arched eyebrows, and a broad nasal bridge/tip.

Treatment

Epilepsy: Managed with standard anti-seizure medication, though some cases are drug-resistant.

Developmental Delays: Early intervention with physical therapy, occupational therapy, and speech therapy is essential to address muscle weakness, feeding issues, and cognitive delays.

Ophthalmology: Regular eye exams for coloboma or ptosis, with surgery as needed.

Orthopedics: Monitoring for scoliosis and joint limitation/ankylosis.

Cardiac and Renal: Periodic assessments for structural heart defects or kidney issues.

Other Care: Feeding therapy, specialized education, and potential ear, nose, and throat (ENT) evaluation for hearing loss. 

Type of Doctor Department : A Pediatric Neurologist


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