Acrocallosal syndrome
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Acrocallosal syndrome is a rare condition characterised by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
Beschreibung
Acrocallosal syndrome is a rare condition characterised by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
Agenesis of the corpus callosum occurs when the tissue that connects the left and right halves of the brain (the corpus callosum) fails to form normally during the early stages of development before birth. Other brain abnormalities, including the growth of large cysts in brain tissue, have also been reported in people with acrocallosal syndrome. The changes in brain structure associated with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some affected individuals also experience seizures.
Extra fingers and toes are common in people with acrocallosal syndrome. The extra digits can be on the same side of the hand or foot as the pinky or little toe (postaxial polydactyly) or on the same side as the thumb or great toe (preaxial polydactyly). Some affected individuals also have webbed or fused skin between the fingers or toes (syndactyly).
Distinctive facial features that can occur with acrocallosal syndrome include widely spaced eyes (hypertelorism) and a high, prominent forehead. Many affected individuals also have an unusually large head size (macrocephaly).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
ACLS
Hallux duplication, postaxial polydactyly, and absence of corpus callosum
Schinzel acrocallosal syndrome
Schinzel syndrome 1
Related patient information and medicines
Patient information leaflet
Fetales Alkoholsyndrom
FAS is a pattern of Behinderungen that can develop in a Baby as it grows in the womb (uterus) because the mother drank alcohol whilst pregnant and the baby is therefore exposed to alcohol before birth. Fetal alcohol syndrome (FAS) is part of a group of conditions called fetal alcohol spectrum disorders (FASDs). These are a range of disabilities a.
Patient information leaflet
Proctalgia fugax und Analschmerzen
Proctalgia fugax is a fleeting pain in the anus. It lasts less than 20 minutes, with no symptoms whatsoever in between episodes. Levator ani-Syndrom is a Schmerzen which lasts for longer. Both are only diagnosed when no other cause is found. What is proctalgia fugax. Proctalgia fugax is one of a number of conditions which cause anal or rectal pain.
Patient information leaflet
Schlafapnoe
If you have sleep apnoea (also known as obstructive Schlaf 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
Ehlers-Danlos-Syndrom
Der Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in Arztpraxis body, including skin, joints, blood vessels and 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.
Patient information leaflet
Akutes Koronarsyndrom
The term 'acute coronary syndrome' (ACS) covers a range of disorders, including a heart attack (myocardial infarction) and unstable angina, that are caused by a sudden reduction of blood flow to part of the Herz muscle. This is usually caused by a blood clot. What is acute coronary syndrome. The term 'acute coronary syndrome' (ACS) covers a range.
Patient information leaflet
Antiphospholipid-Syndrom
Antiphospholipid syndrome is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Weiterführende Lektüre und Referenzen
- Acrocallosal syndrome; MedlinePlus, National Library of Medicine.
- Courtens W, Vamos E, Christophe C, Schinzel A. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am J Med Genet. 1997 Mar 3;69(1):17-22. doi: 10.1002/(sici)1096-8628(19970303)69:13.0.co;2-q.
- Elson E, Perveen R, Donnai D, Wall S, Black GC. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet. 2002 Nov;39(11):804-6. doi: 10.1136/jmg.39.11.804.
- Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S. Spectrum of the acrocallosal syndrome. Am J Med Genet. 2002 Feb 15;108(1):7-11. doi: 10.1002/ajmg.10236.
- Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attie-Bitach T. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016.
- Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joye N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attie-Bitach T. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.
- Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Jan 2017 | 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.