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Baraitser-Winter syndrome
ICD-10 Codes
Related ICD-10:
Description
Distinctive Facial Features and Intellectual Disability
Baraitser-Winter syndrome, also known as Baraitser-Winter malformation syndrome (BWMS), is a rare genetic disorder that affects the development of multiple parts of the body. The condition is characterized by distinct facial anomalies, intellectual disability, and abnormal brain development.
- Facial Dysmorphism: Individuals with Baraitser-Winter syndrome often have a distinctive facial appearance, which can include:
- Hypertelorism (widely spaced eyes) [7]
- Ptosis (drooping eyelids) [3][8]
- Broad bulbous nose [3]
- Metopic ridging/trigonocephaly (a condition where the metopic suture is prominent) [4][8]
- Intellectual Disability: Baraitser-Winter syndrome is associated with intellectual disability, ranging from mild to severe. This can impact an individual's cognitive and adaptive functioning.
- Abnormal Brain Development: The condition also affects brain development, leading to abnormalities in the grey matter of the brain.
Overall, Baraitser-Winter syndrome is a complex disorder that requires comprehensive medical evaluation and management. Early diagnosis and intervention are crucial for optimizing outcomes and improving quality of life for individuals affected by this rare genetic condition.
References: [1] Apr 1, 2013 — Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. [2] It is associated with distinct face and eye anomalies, intellectual disability and abnormal development of the grey matter of the brain. [3] Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic ... [4] by TM Yates · 2017 · Cited by 36 — It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, ... [5] Apr 1, 2013 — Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain. [6] by A Verloes · 2015 · Cited by 148 — Baraitser–Winter malformation syndrome (BWMS), characterized by short stature, hypertelorism, bilateral ptosis, ocular colobomata, metopic ridging and agyria/ ... [7] An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (... [8] by TM Yates · 2017 · Cited by 36 — It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, ...
Additional Characteristics
- short stature
- intellectual disability
- ptosis (drooping eyelids)
- distinct facial anomalies
- abnormal brain development
- hypertelorism (widely spaced eyes)
- broad bulbous nose
- trigonocephaly (a condition where the metopic suture is prominent)
Signs and Symptoms
Common Signs and Symptoms of Baraitser-Winter Syndrome
Baraitser-Winter syndrome, also known as WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation), is a rare genetic disorder characterized by several distinct physical and developmental features. The following are some of the common signs and symptoms associated with this condition:
- Facial Dysmorphism: Individuals with Baraitser-Winter syndrome often exhibit facial abnormalities, including:
- Hypertelorism (eyes that appear too far apart) [3][6]
- Ptosis (drooping eyelids) [5][9]
- Broad nasal bridge [4][8]
- Proptosis (bulging eyes) [6]
- Short Stature: Many individuals with Baraitser-Winter syndrome experience short stature, which can be a significant concern for growth and development [1][2][4][8]
- Ear Abnormalities and Hearing Loss: Some people with this condition may have ear abnormalities or hearing loss [1][2]
- Heart Defects: Heart defects are also a potential feature of Baraitser-Winter syndrome [1][2]
- Intellectual Disability: Individuals with this condition often experience intellectual disability, which can range from mild to severe [8][9]
Other Possible Features
In addition to the above-mentioned signs and symptoms, some individuals with Baraitser-Winter syndrome may also exhibit:
- Microcephaly (small head size) [7]
- Prominent Forehead [7]
- Bitemporal Narrowing [7]
- Depressed Nasal Bridge [7]
It's essential to note that not everyone with Baraitser-Winter syndrome will exhibit all of these features, and the severity of symptoms can vary widely from person to person.
References:
[1] Apr 1, 2013 - Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) ...
[2] Apr 1, 2013 - Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) ...
[3] Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic ...
[4] Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) ...
[5] by TC Allawh · 2017 · Cited by 6 — Baraitser and R. M. Winter, who presented a seemingly distinct syndrome of iris coloboma, bilateral ptosis, hypertelorism, a broad nasal bridge, prominent ...
[6] by N Di Donato · 2014 · Cited by 93 — Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia ...
[7] by MM Abou Henedy · 2010 · Cited by 7 — The cranio-facial features include microcephaly, prominent forehead, bitemporal narrowing, depressed nasal bridge, anteverted nares, midface hypoplasia, ...
[8] Inherited syndrome with short stature, mental retardation, ptosis, hypertelorism iris coloboma, and broad nasal bridge.
[9] Short stature, small heads, and intellectual disability are common. The eyes appear too far apart, the eyebrows are unusually high, and the eyelids usually ...
Additional Symptoms
- Microcephaly
- Intellectual Disability
- Facial Dysmorphism
- Heart Defects
- Ear Abnormalities and Hearing Loss
- Prominent Forehead
- Bitemporal Narrowing
- Depressed Nasal Bridge
- short stature
Diagnostic Tests
Understanding Diagnostic Tests for Baraitser-Winter Syndrome
Baraitser-Winter syndrome (BWS) is a rare genetic disorder that affects various parts of the body, including the brain, heart, and other organs. Diagnosing BWS can be challenging, but several diagnostic tests are available to confirm the condition.
- Genetic Testing: Genetic testing is a crucial step in diagnosing BWS. It involves analyzing DNA samples from affected individuals or family members to identify 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 (15).
- Prenatal Diagnosis: Prenatal diagnosis is also possible for BWS. A case study reported a prenatal diagnosis of BWS based on ultrasound findings and genetic testing (14). This can help guide treatment and management decisions.
- Clinical Features: Clinical features such as pachygyria, an area of the brain with an abnormal thickness, are associated with BWS (12). Identifying these features through imaging studies like MRI scans can aid in diagnosis.
Key Points to Remember
- Genetic testing is a crucial step in diagnosing Baraitser-Winter syndrome.
- Prenatal diagnosis is possible based on ultrasound findings and genetic testing.
- Clinical features such as pachygyria are associated with BWS and can be identified through imaging studies.
References:
[1] - Quest Diagnostics Incorporated and its affiliated companies provide HIPAA covered services, including genetic testing for Baraitser-Winter syndrome. (Context 11)
[12] - The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which can be identified through imaging studies like MRI scans. (Context 12)
[14] - A case study reported a prenatal diagnosis of BWS based on ultrasound findings and genetic testing. (Context 14)
[15] - Genetic testing for Baraitser-Winter syndrome involves analyzing DNA samples from affected individuals or family members to identify mutations in the ACTB gene. (Context 15)
Additional Diagnostic Tests
- Clinical Features
- Genetic Testing
- Prenatal Diagnosis
Treatment
Treatment Options for Baraitser-Winter Syndrome
Baraitser-Winter syndrome (BWS) is a rare genetic disorder that affects the development of various parts of the body, including the face and brain. While there is no cure for BWS at present, treatment options are available to manage its associated medical problems.
Epilepsy Management
One of the common complications of BWS is epilepsy, which can be challenging to treat due to drug resistance in some patients. According to search results [3], epilepsy management is difficult, and some patients may require polytherapies to control seizures. However, with proper treatment, many individuals with BWS can experience significant improvement in seizure control.
Standard Treatment for Medical Concerns
Treatment of manifestations in conjunction with associated specialists is a standard approach for managing medical concerns related to BWS [3]. This may involve working with neurologists, orthopedic specialists, and other healthcare professionals to address specific issues such as epilepsy, vision problems, or developmental delays.
Current Treatment Status
Unfortunately, there is no cure available for BWS at present [4]. However, treatment options are available to manage many of the associated medical problems. While these treatments may not eliminate all symptoms, they can significantly improve quality of life and overall well-being.
References:
- [3] Nov 19, 2015 — Treatment of manifestations: Standard treatment for medical concerns in conjunction with the associated specialist; management of developmental ...
- [4] Apr 1, 2013 — BWCFF syndrome cannot be cured at the present time. However, treatment is available for many of the medical problems, like epilepsy, which can be associated ...
Recommended Medications
- polytherapies
- treatment to control seizures
- working with neurologists and other healthcare professionals
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Baraitser-Winter Syndrome Differential Diagnosis
Baraitser-Winter syndrome (BWS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other systemic abnormalities. When diagnosing BWS, it's essential to consider the differential diagnosis, which includes other conditions that may present with similar symptoms.
Conditions to Consider in the Differential Diagnosis of Baraitser-Winter Syndrome:
- Noonan syndrome: This condition can also present with intellectual disability, facial anomalies
Additional Differential Diagnoses
Additional Information
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