Crouzon syndrome with acanthosis nigricans
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Crouzon syndrome with acanthosis nigricans is a disorder characterised by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
Beschreibung
Crouzon syndrome with acanthosis nigricans is a disorder characterised by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap with those of a similar condition called Crouzon syndrome. Both conditions involve premature fusion of the skull bones, which affects the shape of the head and face. Other common features of both conditions include wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a small, beaked nose; and a flat or sunken appearance of the middle of the face (midface hypoplasia). Less common features that can occur in either disorder include an opening in the roof of the mouth (cleft palate), dental problems, or hearing loss. People with Crouzon syndrome or Crouzon syndrome with acanthosis nigricans usually have normal intelligence.
Crouzon syndrome with acanthosis nigricans is distinguished from Crouzon syndrome by several features, including skin abnormalities. Acanthosis nigricans is a skin condition characterised by thick, dark, velvety skin in body folds and creases, including the neck and underarms. People with Crouzon syndrome with acanthosis nigricans may also have other skin abnormalities; for example, scars in the thick, dark areas of skin are flat and pale. These scars are usually from surgical procedures that are commonly needed in affected individuals. Additionally, in some people with the condition, one or both nasal passages are narrowed (choanal stenosis) or completely blocked (choanal atresia), which can cause difficulty breathing. A buildup of fluid in the brain (hydrocephalus) can also occur. Nasal passage abnormalities and hydrocephalus are rare in Crouzon syndrome. Less common features of Crouzon syndrome with acanthosis nigricans include subtle changes in the bones of the spine (vertebrae), abnormalities of the finger bones, and noncancerous growths in the jaw called cementomas.
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
CAN
Crouzonodermoskeletal syndrome
Related patient information and medicines
Patient information leaflet
Halsrippe
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused by, for example, a cervical rib. What is a cervical rib. About 1 in 200 people are born with.
Patient information leaflet
Orales Allergiesyndrom
Oral allergy syndrome causes symptoms around the mouth that are ausgelöst by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
Reizdarmsyndrom
RDS stands for Reizdarmsyndrom, and it is a long-term chronic condition of the gut (bowel) that causes episodes of tummy (abdominal) cramps, bloating and either constipation or diarrhoea. IBS is a problem with how the bowel works. IBS stands for irritable bowel syndrome and may not cause any harm to your body but sometimes causes a lot of.
Patient information leaflet
Proctalgia fugax und Analschmerzen
Proktalgie fugax ist 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. Proctalgia fugax is one of a number of conditions which cause anal or rectal pain (sometimes called ano-rectal.
Patient information leaflet
Marfan-Syndrom
Marfan-Syndrom (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome can affect different people in different ways. You may have a history of Marfan syndrome in your family. If you have Marfan syndrome, you have a 50:50 chance of.
Patient information leaflet
Schmerzen im Knie und in der Kniescheibe
Most knee conditions cause pain in the front (anterior) of the knee. Patellofemoral... Pain at the back of the knee is usually caused by a Baker's cyst (also known as a popliteal cyst). The rest of this leaflet deals with patellofemoral pain syndrome, which is much more common. What is patellofemoral pain syndrome. Patellofemorales Schmerzsyndrom is.
Weiterführende Lektüre und Referenzen
- Crouzon syndrome with acanthosis nigricans; MedlinePlus, National Library of Medicine.
- Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet. 2007 Nov;72(5):405-10. doi: 10.1111/j.1399-0004.2007.00884.x.
- Chen F, Degnin C, Laederich M, Horton WA, Hristova K. The A391E mutation enhances FGFR3 activation in the absence of ligand. Biochim Biophys Acta. 2011 Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011.04.007. Epub 2011 Apr 22.
- Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. PLoS One. 2013;8(2):e56521. doi: 10.1371/journal.pone.0056521. Epub 2013 Feb 20.
- Cohen MM Jr. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet. 1999 May 7;84(1):74. No abstract available.
- Mir A, Wu T, Orlow SJ. Cutaneous features of Crouzon syndrome with acanthosis nigricans. JAMA Dermatol. 2013 Jun;149(6):737-41. doi: 10.1001/jamadermatol.2013.3019.
- Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1;98(1):75-91.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387.
- Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Mar 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.