Bart’s syndrome Disease

About Gene:

Bart syndrome is a rare genetic condition that is thought to be a variety of aplasia cutis congenita (ACC) with epidermolysis bullosa. It is identified by a localized loss of skin, blister development, and nail malformation.

Number of Patients: 0

Disease Causing Genes:

NPPB TNNT2 INHA AFP INHBA

Sign and Symptoms:

  1. -skeletal muscle abnormalities -delayed gross motor skill development -weak muscle tone -frequent infections -failure to thrive in infants and other abnormalities in growth -exercise intolerance or lack of stamina -distinctive facial features in childhood, including a round face with full cheeks, broad forehead, prominent chin, large ears, and deep-set eyes

Diagnosis:

(1) Medical history collection (2) Physical examination (3) Skin biopsy

Preventions:

Treatment:

-physical therapy to help babies with reduced muscle tone -early intervention -antibiotics to prevent or treat bacterial infections -deep and large wounds may require surgical intervention such as skin grafting or local flaps