Chromosome 13p duplication

Overview

A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.

Symptoms

* Curved fifth finger * Cloverleaf skull * Glaucoma * Downslanted fissures * Undescended testes * Cleft palate * Wide set eyes * Weak eye muscles * Congenital heart anomaly * Epicanthic folds * Long nose * Large nose * Bulbous nose * Optic disc anomaly * Preauricular tags * Short neck * Webbed toes * Mental retardation * Small head * Squint * Buphthalmos * Late puberty * Hypogonadism * Myelomeningocele * Short stature * Small jaw * Optic disc atrophy

Diagnosis

This medical information about signs and symptoms for Chromosome 13p duplication has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 13p duplication signs or Chromosome 13p duplication symptoms. Furthermore, signs and symptoms of Chromosome 13p duplication may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 13p duplication symptoms.