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Because the fingers are not permanently fixed in the curved or bent position, this particular abnormality may properly be called “pseudocamptodactyly” (pseudo meaning false).In addition, individuals with this syndrome have shortened muscle-tendon units in the forearms and legs, the latter possibly resulting in various foot deformities.These may include a permanent flexing of the toe or toes (hammer or claw toes), abnormal inward bending of the foot (clubfoot or talipes), flatfoot (pes planus), and/or pigeon-toe (metatarsus varus).In some cases, shortened muscles and tendons may result in an unusual tilt of the pelvis and/or an abnormal positioning or slight twist of the head (mild torticollis).In addition, other reported cases have included five affected individuals in three generations of one Japanese family, six affected members of a German family, and affected individuals of families (kindreds) within the Netherlands, Canada, and, as mentioned above, the United States. The Hecht, Beals, and Wilson syndrome: report of case. The disorder was first described in the medical literature in 1969.
It is important to note that the severity of many of the physical findings associated with this disorder may vary greatly from individual to individual.Many of the symptoms of Trismus-Pseudocamptodactyly Syndrome are manifested during infancy. As an affected child ages, abnormalities associated with shortened muscle-tendons units (e.g., difficulty in manual dexterity) may become apparent. Linkage analysis with the trismus-pseudocamptodactyly syndrome. Trismus-Pseudocamptodactyly Syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units in the fingers, causing the fingers to curve or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion).Because the fingers are not permanently bent or curved, this particular finding is termed "pseudocamptodactyly" (pseudo meaning false).
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The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.