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Catel Manzke Syndrome

Catel Manzke Syndrome 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.

Catel Manzke Syndrome 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.

Catel Manzke Syndrome 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.

Catel Manzke Syndrome 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.

Catel Manzke 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.

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