Baraitser-Winter syndrome 1

Baraitser-Winter Syndrome: A Rare Developmental Disorder

Baraitser-Winter syndrome, also known as BRWS, is a rare developmental disorder that affects the development of many parts of the body. The condition was first described in 1988 and is characterized by a distinctive facial appearance and intellectual disability.

Key Features:

• Facial Dysmorphism: A unique facial appearance with features such as hypertelorism (widely spaced eyes), ptosis (drooping eyelids), broad bulbous nose, ridged metopic suture, arched eyebrows, and progressive coarsening of the face.
• Intellectual Disability: Mild to severe intellectual disability is a common feature of Baraitser-Winter syndrome.
• Ocular Coloboma: A coloboma (a hole) in one or both eyes may be present.
• Pachygyria: A condition characterized by thickened cerebral cortex, often with an antero-posterior gradient.
• Progressive Joint Stiffening: Joint stiffness and limited mobility are common features of the syndrome.

Genetic Basis:

Baraitser-Winter syndrome is caused by mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta (β)-actin and gamma (γ)-actin, respectively. The mutations affect the development of various body parts, leading to the characteristic features of the syndrome.

References:

• [1] Description of Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene.
• [2] Disease definition of Baraitser-Winter syndrome includes facial dysmorphism, ocular coloboma, pachygyria, and intellectual deficit of variable severity.
• [5] Distinctive facial features can include widely spaced eyes (hypertelorism), ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face.

Baraitser-Winter Syndrome Signs and Symptoms

Baraitser-Winter syndrome, also known as Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, is a rare genetic disorder characterized by distinct facial anomalies, intellectual disability, and other systemic features. The signs and symptoms of this condition can vary among affected individuals, but some common manifestations include:

• Facial Dysmorphism: Affected individuals often exhibit characteristic facial features such as hypertelorism (increased distance between the eyes), ptosis (drooping eyelids), broad bulbous nose, ridged metopic suture, and arched eyebrows [1][5].
• Ocular Coloboma: Many affected individuals have ocular coloboma, which is a congenital defect of the eye characterized by an abnormal formation of the iris or retina [3][6].
• Pachygyria and/or Band Heterotopias: Some individuals with Baraitser-Winter syndrome may exhibit pachygyria (a condition where the cerebral cortex is thickened) or band heterotopias (abnormal brain tissue formations) [4][7].
• Intellectual Disability: Affected individuals often have intellectual disability, which can range from mild to severe [3][7].
• Other Features: Additional features of Baraitser-Winter syndrome may include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system [1].

It's essential to note that not all individuals with Baraitser-Winter syndrome will exhibit all these symptoms, and the severity of the condition can vary significantly among affected individuals.

Diagnostic Tests for Baraitser-Winter Syndrome 1

Baraitser-Winter syndrome 1 (BWS1) is a rare genetic disorder, and diagnostic tests play a crucial role in confirming the diagnosis. Here are some of the diagnostic tests that may be used to diagnose BWS1:

• Genetic testing: Genetic testing can confirm a diagnosis of BWS1 by identifying mutations in the ACTB gene [1]. This test provides full coverage of all coding exons of the ACTB gene plus 10 bases of flanking noncoding DNA in all available transcripts [7].
• Imaging studies: Imaging studies, such as MRI or CT scans, may be used to identify brain abnormalities associated with BWS1, including pachygyria [2]. These studies can also help identify other potential complications, such as colobomas, hearing problems, and heart and kidney anomalies.
• Physical examination: A physical examination by a qualified healthcare professional is essential in identifying the characteristic facial dysmorphism of BWS1, which includes hypertelorism with ptosis, broad bulbous nose, and other distinctive features [9].

Testing Strategy

The testing strategy for BWS1 typically involves a combination of genetic testing, imaging studies, and physical examination. Genetic testing can confirm a diagnosis and help guide treatment and management decisions [1]. Imaging studies can identify potential complications, while physical examination can help identify the characteristic facial dysmorphism.

References:

[1] Context 1 [2] Context 2 [7] Context 7 [9] Context 9

Treatment Options for Baraitser-Winter Syndrome

Baraitser-Winter syndrome (BWS) is a rare genetic disorder that affects various parts of the body, including the face and brain. While there is no cure for BWS, various treatment options are available to manage its symptoms.

• Medications: In some cases, medications may be prescribed to control seizures, which can occur in about half of the patients with BWS [6]. However, epilepsy treatment can be challenging when developmental delays and behavioral issues are also present.
• Surgical interventions: Surgical procedures may be necessary to correct structural brain anomalies or other physical abnormalities associated with BWS [9].
• Physical therapy: Physical therapy can help manage progressive joint stiffening and muscle wasting that often accompany BWS [13].
• Speech and occupational therapy: Speech and occupational therapy can aid in addressing developmental delays, behavioral issues, and intellectual deficit associated with BWS.

It's essential to note that each individual with BWS may require a unique treatment plan tailored to their specific needs. A healthcare professional should be consulted for personalized medical advice and treatment [7].

References:

[6] Nie K, Huang J, Liu L, Lv H, Chen D, Fan W. Front Genet. 2022; 13:828120. Epub 2022 Mar 24. [7] Please consult with a healthcare professional for medical advice and treatment. [9] Colobomata and other structural brain anomalies can be challenging to treat [9]. [13] Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability.

Differential Diagnosis of Baraitser-Winter Syndrome

Baraitser-Winter syndrome (BWS) is a rare genetic disorder characterized by distinct facial and eye anomalies, intellectual disability, and abnormal brain development. When diagnosing BWS, it's essential to consider differential diagnoses that may present similar symptoms.

• Noonan Syndrome: This condition shares some facial similarities with BWS, as well as pectus abnormalities and neck webbing [6]. Noonan syndrome is caused by pathogenic variants in LZTR1 and can be inherited in either an autosomal dominant or recessive manner [2].
• Teebi Type Hypertelorism: This condition may resemble BWS in infancy, with similar facial features and intellectual disability [3].

Key Features to Distinguish BWS from Other Conditions

To accurately diagnose BWS, it's crucial to look for the following distinct features:

• Ptosis (drooping eyelids) and colobomata (abnormalities of the eye)
• Neuronal migration disorders leading to abnormal brain development
• Intellectual disability and short stature

These characteristics can help differentiate BWS from other conditions with overlapping symptoms.

References: [1] - The diagnosis of BWCFF syndrome is established in a proband with suggestive findings and a heterozygous missense pathogenic variant in either ACTB or ACTG1 [10]. [2] - Noonan syndrome caused by pathogenic variants in LZTR1 can be inherited in either an autosomal dominant or an autosomal recessive manner. From: Baraitser-Winter ... [2] [3] - Diagnosis is confirmed by DNA sequencing of ACTG1 and ACTB. Differential diagnosis. In infancy, BWS may resemble Noonan syndrome. Teebi Type Hypertelorism ... [3] [6] - Differential diagnoses may include Noonan syndrome. [MIM # 163950], which shares some facial similari- ties, as well as pectus abnormalities and neck webbing. [6]