Cantú syndrome
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Cantú syndrome is a rare condition characterised by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
Beschreibung
Cantú syndrome is a rare condition characterised by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.
Many infants with Cantú syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cantú syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).
Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.
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
Cantu syndrome
Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome
Hypertrichotic osteochondrodysplasia
Related patient information and medicines
Patient information leaflet
Posturales Tachykardiesyndrom
Posturale Tachykardiesyndrom (PoTS) ist an abnormal response of your body when you are upright (usually when standing). Your heart rate increases too much after getting up from lying or sitting down. It is caused by a problem with the nervous system which controls the autonomic functions in the body. This part of the nervous system is called the.
Patient information leaflet
Cauda-equina-Syndrom
Cauda equina syndrome is a particularly serious type of nerve root problem. This is a rare disorder where there is pressure on the nerves at the very bottom of the spinal cord. The collection of nerves at the bottom of the spinal cord is called the cauda equina because it is said to look like a horse's tail. What is cauda equina syndrome. Cauda.
Patient information leaflet
Wolff-Parkinson-White-Syndrom
Wolff-Parkinson-White-Syndrom is not common but can cause a fast heart rate or other heart rhythm abnormalities from time to time. Treatment can be given for the fast heart rate and also to prevent any further episodes. What is Wolff-Parkinson-White syndrome. In Wolff-Parkinson-White (WPW) syndrome there is an extra connection (an accessory.
Patient information leaflet
Charles-Bonnet-Syndrom
Charles Bonnet syndrome is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). The hallucinations are most marked in low light or when relaxing and are often complicated scenes involving faces, children and wild animals. People.
Patient information leaflet
Zyklisches Erbrechensyndrom
Cyclical vomiting syndrome is a condition which occurs mainly in children but can also affect adults. It is more common in people who have migraines. T... Some studies have suggested a link between cyclical vomiting syndrome and autonomic disturbances or mitochondrial dysfunction. There is also good evidence that repeated cannabis use können lead to.
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). This leaflet concentrates on compartment syndrome that can affect the limbs and does nicht discuss abdominal compartment syndrome.
Weiterführende Lektüre und Referenzen
- Cantú syndrome; MedlinePlus, National Library of Medicine.
- Garcia-Cruz D, Sanchez-Corona J, Nazara Z, Garcia-Cruz MO, Figuera LE, Castaneda V, Cantu JM. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet. 1997 Mar 17;69(2):138-51. doi: 10.1002/(sici)1096-8628(19970317)69:23.0.co;2-l.
- Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A. 2006 Aug 1;140(15):1673-80. doi: 10.1002/ajmg.a.31348.
- Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Dominant missense mutations in ABCC9 cause Cantu syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.
- Lazalde B, Sanchez-Urbina R, Nuno-Arana I, Bitar WE, de Lourdes Ramirez-Duenas M. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct 23;94(5):421-7. doi: 10.1002/1096-8628(20001023)94:53.0.co;2-9.
- Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome. Am J Med Genet. 1999 Aug 6;85(4):395-402.
- Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S. Cantu syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885. Epub 2011 Feb 22.
- van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Jan 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.