Brachydactyly-long thumb syndrome

Brachydactyly-long thumb syndrome
Other names	Long-thumb brachydactyly syndrome, brachydactyly long thumb type.
Specialty	Medical genetics
Symptoms	Brachydactyly, long thumb and heart defects.
Complications	Possible death due to heart defects
Usual onset	Birth
Duration	Life-long
Causes	Autosomal dominant inheritance
Risk factors	Having a parent with the disorder
Diagnostic method	Physical examination, X-ray, CT scan.
Prevention	None
Prognosis	Ok
Frequency	very rare, only 4 cases have been reported.

Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.