Camptodactyly joint contractures and facial skeletal dysplasia

Synonyms

1

Overview

It is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia) permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision.

Causes

Camptodactyly joint contractures is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.

Resources

• NIH