De Lange Syndrome
De Lange Syndrome Causes
The disease is caused by mutations in the NIPBL, SMC3 and SMC1A genes that produce the protein delangin, which directs the manner of development before birth.
De Lange Syndrome Definition
De lange syndrome, or Cornelia de Lange syndrome (CdLS), is a rare congenital disorder that affects a person's physical features and developmental processes.
De Lange Syndrome Diagnosis
Specialist blood tests and ultrasound procedures are conducted to determine the onset of the disease.
De Lange Syndrome Symptoms and Signs
Patients with CdLS are born small and remain small as they age. They grow to be very slow learners, with limb deformities such as small or even missing arms. Hairiness is common, as well as low set ears and widely spaced teeth.
De Lange Syndrome Treatment
There is no standard cure for the disease. Special therapies meanwhile help reduce the symptoms of the disease.