Catel-Manzke syndrome is a very rare genetic disorder characterized by a list of abnormalities of the index fingers; features relating to Pierre Robin Syndrome such as a cleft palette and recessed chin; additional anomalies may be observed. The potential for heart defects also exists. It does not appear to affect mental development.
Catel-Manzke syndrome can cause the index fingers to appear bent, there is also the presence of an additional bone, called a Hyperphalangy, between the index and middle fingers.
As of now there are only 26 individuals known to have Catel-Manzke syndrome.
On February 23rd, 2014 our son John David Miller arrived. He was overall healthy, but the presence of bent fingers, a high pallet arch, and a recessed chin indicated he had some type of genetic anomaly. His feeds were a tad slow, and his slow weight gain became a concern. He was able to be released from the hospital two weeks after arriving. Unfortunately this would be short-lived because about two months later he would be admitted to McLane Children’s Scott & White in Temple, TX for the majority of the month of May due to slow weight gain.
After being admitted his medical team suspected he was overworking during his feeds. They also discovered his larynx was collapsing each time he would take a breath. Nutrient absorption was their primary concern as it took a great deal of effort to breathe. A surgery to remove excess tissue was performed. His weight gain was still an issue afterward and a g-button was implanted about a week later. A g-button is the connection port used for feeding tubes. Fortunately shortly after both surgeries he began to gain a few ounces each day.
His weight gain continued, enough to be released from the hospital. It was just shy of a month after being admitted.
Finally, during a follow-up exam with his geneticist it was strongly suggested he may have Catel-Manzke syndrome. An interesting note about the diagnoses was that the name originally came from our lactation consultant who had briefly studied genetics in school. It was suggested to our geneticist ,who researched it, and agreed Catel-Manzke syndrome could match all of his features. While heart defects can be associated with the syndrome, so far John has not shown any signs of the defects. This will continue to be monitored along with his development.