Stapes ankylosis with broad thumb and toes
Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly, stapes ankylosis syndrome without symphalangism, teunissen-cremers syndrome
Type of disease: Genetic, autosomal dominant | Rare conditions
Stapes ankylosis with broad thumbs and toes, or Teunissen-Cremers syndrome, is a rare syndrome that begins in infancy. A person with Teunissen-Cremers syndrome will have stapes ankylosis, or very stiff stapes. The stapes is a bone in the inner ear that allows a person to hear. Stapes ankylosis causes deafness. Teunissen-Cremers syndrome causes thumbs and the first (or big) toes to be wider and flatter than usual. Someone with this syndrome will also be farsighted. This means that objects up-close will be blurry.
Someone with Teunissen-Cremers syndrome may have shortening of the bones that are at the tips of the fingers and toes called distal phalanges. Teunissen-Cremers syndrome may also cause toe or finger syndactyly. This is sometimes called “webbed fingers” or “webbed toes”, where a person’s fingers or toes are not completely separated.
Teunissen-Cremers syndrome is passed down from parents to their children through genes. Genes are segments of DNA that act as an instruction manual for the body. A gene mutation is when one or more nucleotides in the DNA “code” that makes up a gene is changed. Teunissen-Cremers syndrome is caused by mutations in a gene called NOG. Teunissen-Cremers syndrome is most likely inherited in an autosomal dominant pattern. This means that the child only has to inherit one changed copy of the NOG gene from one parent to have Teunissen-Cremers syndrome.
Stapes ankylosis and toe or finger syndactyly can sometimes be treated with surgery. If you or a family member has been diagnosed with Teunissen-Cremers syndrome talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.