Brachydactyly Type-E

Definition

Definition of Brachydactyly Type-E
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. BDE is very rare. Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. Affected individuals may be of moderately short stature. It is inherited as an autosomal dominant trait with variable expressivity. BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32).

Symptoms

Symptoms of Brachydactyly Type-E
The list of signs and symptoms for Brachydactyly Type E listed below:

1. Short Metacarpals
2. Short Metatarsals

Causes

Causes of Brachydactyly Type-E
The list of causes for Brachydactyly Type E listed below:

1. Congenital Syndromes
2. Shortness Of Fingers And Toes
3. Nail Dysplasia
4. Short Carpal Bones
5. Short Metacarpal Bones
6. Osebold-Remondini Syndrome

Diagnosis

Diagnosis of Brachydactyly Type-E
The phrase "signs of Brachydactyly, Type-E" should, strictly speaking, refer only to those signs and symptoms of Brachydactyly, Type-E that are not readily apparent to the patient.

Treatment

Treatment of Brachydactyly Type-E
Consult with your doctor.

Prognosis

Prognosis of Brachydactyly Type-E
Consult with your doctor.

Prevention

Prevention of Brachydactyly Type-E
Consult with your doctor.