FOXG1 syndrome
Zuletzt aktualisiert 28. März 2023
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
FOXG1 syndrome is a condition characterised by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
Beschreibung
FOXG1 syndrome is a condition characterised by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. Affected individuals may have autism spectrum disorder, which is characterised by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills.
FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterised by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.
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
FOXG1-related disorder
Related patient information and medicines
Patient information leaflet
Cushing-Syndrom
Cushing's syndrome is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
Patient information leaflet
Nephrotisches Syndrom
Nephrotisches Syndrom 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 nephro... What is nephrotic syndrome. Nephrotic syndrome is not a.
Patient information leaflet
Guillain-Barré-Syndrom
Guillain-Barré syndrome affects the nerves of the limbs and body and is usually triggered 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-Syndrom (GBS) ist a disease that affects nerves throughout the body and limbs. It is usually.
Patient information leaflet
Kompartment-Syndrom
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, in the body. It can occur in the hand, the forearm, the upper arm, the buttocks, the leg, the foot and the tummy (abdomen). It tends to affect people who ar... This leaflet concentrates on compartment syndrome that can affect the limbs and does not.
Patient information leaflet
Fetales Antikonvulsivum-Syndrom
Fetales Antikonvulsivum-Syndrom (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Mikrovaskuläre Angina
Es gibt no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Weiterführende Lektüre und Referenzen
- FOXG1 syndrome; MedlinePlus, National Library of Medicine.
- De Filippis R, Pancrazi L, Bjorgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13.
- Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):153-163. doi: 10.1159/000327329. Epub 2011 Apr 29.
- Hou PS, hAilin DO, Vogel T, Hanashima C. Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders. Front Cell Neurosci. 2020 Feb 25;14:35. doi: 10.3389/fncel.2020.00035. eCollection 2020.
- Kortum F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010.087528. Epub 2011 Mar 25.
- Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K. Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. Mol Syndromol. 2011 Sep;1(6):290-293. doi: 10.1159/000330755. Epub 2011 Aug 9.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
28. März 2023 | Neueste Version
1 Dec 2013 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.