Baraitser-Winter syndrome
עודכן לאחרונה 17 ספטמבר 2024
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
תיאור
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
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), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed 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 extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
BRWS
Cerebro-frontofacial syndrome, type 3
Fryns-Aftimos syndrome
Iris coloboma with ptosis, hypertelorism, and mental retardation
Related patient information and medicines
Patient information leaflet
תסמונת התעלה הקרפלית
Carpal tunnel syndrome is a set of symptoms thought to be caused by squashing (compression) of the median nerve in the carpal tunnel. What is carpal tunnel syndrome. This syndrome is a set of symptoms thought to be caused by squashing (compression) of the median nerve in the carpal tunnel. In terms of age, carpal tunnel syndrome is more common in:.
Patient information leaflet
תסמונת גיליאן-בארה
Guillain-Barré syndrome affects the nerves of the limbs and body and is usually מופעל by an infection. The main symptom is sudden onset weakness of the muscles that are supplied by the affected nerves. What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) is a disease that affects nerves throughout the body and limbs. It is usually.
/og.png)
Patient information leaflet
תסמונת כאב אזורי מורכב (CRPS)
תסמונת כאב אזורית מורכבת מטופל? a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. However, there is no relationship to the severity of the injury, and in some cases there is no history of any injury. It usually affects one limb, but can later.
Patient information leaflet
תסמונת נפרוטית
תסמונת נפרוטית is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
דום נשימה בשינה
If you have sleep apnoea (also known as obstructive לישון apnoea syndrome), you have many periods when your breathing stops for 10 seconds or more when you sleep. Central sleep apnoea usually has a neurological cause or can be du... This leaflet focuses on obstructive sleep apnoea syndrome (OSAS), which is a sleep disorder where your breathing.
Patient information leaflet
תסמונת אהלרס-דנלוס
ה Ehlers-Danlos syndromes (EDS) are a group of conditions that affect ה stretchiness and strength of supporting tissues in the body, including skin, joints, דם vessels ו internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
קריאה נוספת והפניות
- Baraitser-Winter syndrome; MedlinePlus, National Library of Medicine.
- Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3. doi: 10.1136/jmg.25.1.41.
- Pallotta R. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. J Med Genet. 1991 May;28(5):342-4. doi: 10.1136/jmg.28.5.342.
- Ramer JC, Lin AE, Dobyns WB, Winter R, Ayme S, Pallotta R, Ladda RL. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 3;57(3):403-9. doi: 10.1002/ajmg.1320570308.
- Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
- Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec;34(6):287-92. doi: 10.1055/s-2003-44666.
- Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.