Definition:
Catel Manzke syndrome is an uncommon genetic disorder combining glossoptosis, cleft palate, and micrognathia with an abnormality of the index fingers. Apart from the major features, there are also several related malformations described, particularly growth retardation and cardiac defect.
Diagnosis:
A physician can generally diagnose the condition through physical exam. Checking with a specialist in genetics can help rule out additional problems associated with the syndrome.
Treatment:
Treatment will vary depending on a patient’s symptoms. Nasopharyngeal cannulation is often done for infants until their jaw grows enough for the tongue to assume a more usual placement in the airwy and mouth. Cleft palate can usually be repaired by a maxillofacial or plastic surgeon. Other treatments may include a language and speech therapy, and physchologist.
Symptoms and Signs:
Infants born with the syndrome have symptoms of supernumerary, unevenly shaped bone called Hyperphalangy found between the index finger’s first bone and the matching bone within the second carpal. Other symptoms include small lower jaw, cleft palate, growth deficiency, malformed ears, cardiac defects, aortic narrowing, and septal defects.
Causes:
Catel Manzke syndrome generally seems to occur at random, for unidentified sporadic reasons. The proposed cause is microdeletion, probably resultant in a closest gene syndrome; however, this may only be proved through ongoing cytogenetic evaluation of other cases using advanced methods.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
